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Wyszukujesz frazę ""Limb Deformities, Congenital"" wg kryterium: Temat


Tytuł :
Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex.
Autorzy :
Tessarech M; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
Malinge MC; Department of Biochemistry and Genetics, Angers University Hospital, Angers, France.
Carmignac V; Reference Center for Rare Genetic Skin Diseases (MAGEC)-Mosaics, Dermatology Department, Dijon-Bourgogne University Hospital, Dijon, France.; INSERM UMR1231, and Genetics of Development Anomalies Laboratory, Bourgogne-Franche-Comté University, Dijon, France.
Vabres P; Reference Center for Rare Genetic Skin Diseases (MAGEC)-Mosaics, Dermatology Department, Dijon-Bourgogne University Hospital, Dijon, France.; INSERM UMR1231, and Genetics of Development Anomalies Laboratory, Bourgogne-Franche-Comté University, Dijon, France.
Petit F; CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Nov; Vol. 182 (11), pp. 2803-2804. Date of Electronic Publication: 2020 Aug 17.
Typ publikacji :
Letter; Comment
MeSH Terms :
Limb Deformities, Congenital*
Tuberous Sclerosis*/diagnosis
Tuberous Sclerosis*/genetics
Fingers/abnormalities ; Humans
SCR Disease Name :
Megalodactyly
Opinia redakcyjna
Tytuł :
EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.
Autorzy :
Otsuki Y; Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.
Ueda K; Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.
Nuri T; Department of Plastic and Reconstructive Surgery, Osaka Medical College, Osaka.
Satoh C; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Maekawa R; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Yoshiura KI; Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 Oct 30; Vol. 99 (44), pp. e22816.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anodontia/*blood
Breast/*abnormalities
Cleft Palate/*blood
Ectodermal Dysplasia/*blood
Fingers/*abnormalities
Hand Deformities, Congenital/*blood
Lacrimal Duct Obstruction/*blood
Limb Deformities, Congenital/*blood
Nails, Malformed/*blood
Pigmentation Disorders/*blood
Transcription Factors/*analysis
Tumor Suppressor Proteins/*analysis
Adolescent ; Anodontia/genetics ; Cleft Palate/genetics ; Ectodermal Dysplasia/genetics ; Hand Deformities, Congenital/genetics ; Humans ; Japan ; Lacrimal Duct Obstruction/genetics ; Limb Deformities, Congenital/genetics ; Male ; Mutation/genetics ; Nails, Malformed/genetics ; Pigmentation Disorders/genetics ; Transcription Factors/blood ; Tumor Suppressor Proteins/blood
SCR Disease Name :
Ectrodactyly-Cleft Palate Syndrome; Limb-mammary syndrome; Propping Zerres syndrome
Czasopismo naukowe
Tytuł :
Lessons learned from 40 novel PIGA patients and a review of the literature.
Autorzy :
Bayat A; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-University Bonn, Bonn, Germany.
Pendziwiat M; Department of Neuropediatrics, University Medical Center Schleswig-Holstein Christian Albrechts University, Kiel, Germany.
Afenjar A; CRMR Congenital Malformations and Diseases of the Cerebellum and Rare Causes of Intellectual Disabilities, Department of Genetics, Sorbonne University, AP-HP, Trousseau Hospital, Paris, France.
Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Bosch F; Children's Hospital, Fürth, Germany.
Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Calvas P; UMR1056 INSERM-Université de Toulouse, Department of Genetics, University Hospital of Toulouse, Toulouse, France.
Ceulemans B; Department of Pediatric Neurology, University Hospital and University of Antwerp, Antwerp, Belgium.
Chassaing N; UMR1056 INSERM-Université de Toulouse, Department of Genetics, University Hospital of Toulouse, Toulouse, France.
Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; UMR S1127, Inserm U1127, CNRS UMR 7225, Institute of brain and spinal cord, Sorbonne University, Paris, France.
Endziniene M; Neurology Department, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Moura de Souza CF; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
Freihuber C; Department of Pediatric Neurology, AP-HP, GHUEP, Armand Trousseau University Hospital, Paris, France.; GRC ConCer-LD, Sorbonne University, UPMC University of Paris 06, Paris, France.
Ganesan S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Gataullina S; Sleep Disorders Center, AP-HP, Antoine-Béclère Hospital, Clamart, France.; Department of Pediatrics and Neonatal Intensive Care, André Grégoire Hospital, Montreuil, France.
Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandy University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Hansen L; Department of Cellular and Molecular Medicine, Faculty of Health Science, Copenhagen Center for Glycomics, Copenhagen, Denmark.
Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
Karsenty C; Neuropediatrics Department, University Hospital of Toulouse, Toulouse, France.
Kievit A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Kooy FR; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Korff CM; Pediatric Neurology Unit, Department of the Woman, Child, and Adolescent, University Hospitals Geneva, Geneva, Switzerland.
Kragh Hansen J; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Larsen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Layet V; Department of Genetics, Du Havre Hospital, Le Havre, France.
Lesca G; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; Institut Neuromyogene, University Claude Bernard Lyon 1, Lyon University, Lyon, France.
McBride KL; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Center for Cardiovascular Research, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, Ohio State University, Columbus, Ohio, USA.
Meuwissen M; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Mignot C; APHP, Department of Genetics, Pitié-Salpêtrière Hospital, Reference Center for Rare Causes of Intellectual Disabilities, Paris, France.; Department of Genetics, Inserm U1127, CNRS UMR 7225, Institute for brain and spinal cord, ICM, AP-HP, De la Pitié Salpêtrière Hospital, Sorbonne University, Paris, France.
Montomoli M; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
Moore H; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Naudion S; Department of Genetics, University of Bordeaux, Bordeaux, France.
Nava C; Department of Genetics, Inserm U1127, CNRS UMR 7225, Institute for brain and spinal cord, ICM, AP-HP, De la Pitié Salpêtrière Hospital, Sorbonne University, Paris, France.
Nougues MC; Department of Neuropaediatrics, Armand Trousseau Hospital, APHP, Paris, France.
Parrini E; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.
Pastore M; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, Ohio State University, Columbus, Ohio, USA.
Schelhaas JH; Department of Epilepsy, Zwolle, the Netherlands.
Skinner S; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Szczałuba K; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
Thomas A; Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Tranebjaerg L; Department of Clinical Genetics, Rigshospitalet/Kennedy Center, Glostrup, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands.
Wolfe LA; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.; Section of Human Biochemical Genetics, National Human Genome Research Institute, Bethesda, Maryland, USA.
Lal D; Cologne Center for Genomics, University Hospital Cologne, University of Cologne, Cologne, Germany.; Stanley Center for Psychiatric Research, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA.; Genomic Medicine Institute, Lerner Research Institute Cleveland Clinic, Cleveland, Ohio, USA.
Gardella E; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Clinical Neurophysiology, Danish Epilepsy Center, Dianalund, Denmark.
Bomme Ousager L; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Brünger T; Cologne Center for Genomics, University Hospital Cologne, University of Cologne, Cologne, Germany.
Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein Christian Albrechts University, Kiel, Germany.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-University Bonn, Bonn, Germany.
Møller RS; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
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Źródło :
Epilepsia [Epilepsia] 2020 Jun; Vol. 61 (6), pp. 1142-1155. Date of Electronic Publication: 2020 May 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genetic Variation/*genetics
Hernia, Diaphragmatic/*diagnostic imaging
Hernia, Diaphragmatic/*genetics
Limb Deformities, Congenital/*diagnostic imaging
Limb Deformities, Congenital/*genetics
Membrane Proteins/*genetics
Adult ; Amino Acid Sequence ; Child ; Cohort Studies ; Electroencephalography/methods ; Facies ; Hernia, Diaphragmatic/physiopathology ; Humans ; Infant, Newborn ; Limb Deformities, Congenital/physiopathology ; Magnetic Resonance Imaging/methods ; Male
SCR Disease Name :
Fryns syndrome
Czasopismo naukowe
Tytuł :
Ulnar Nerve Entrapment at Elbow in an Adult Patient with Macrodactyly.
Autorzy :
Tolerton SK; Hand Unit, Chelsea and Westminster Hospital, London, UK.; Royal National Orthopaedic Hospital, Stanmore, UK.
Sinisi M; Royal National Orthopaedic Hospital, Stanmore, UK.
O'Donnell P; Royal National Orthopaedic Hospital, Stanmore, UK.
Horwitz MD; Hand Unit, Chelsea and Westminster Hospital, London, UK.
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Źródło :
The journal of hand surgery Asian-Pacific volume [J Hand Surg Asian Pac Vol] 2020 Jun; Vol. 25 (2), pp. 236-239.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Cubital Tunnel Syndrome/*diagnosis
Fingers/*abnormalities
Limb Deformities, Congenital/*complications
Cubital Tunnel Syndrome/etiology ; Elbow Joint/physiology ; Female ; Humans ; Limb Deformities, Congenital/diagnosis ; Middle Aged
SCR Disease Name :
Megalodactyly
Czasopismo naukowe
Tytuł :
A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.
Autorzy :
Al Ghamdi MA; Department of Pediatrics, King Saud University, Riyadh, Saudi Arabia.
Al-Qattan MM; Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
Hadadi A; Department of Plastic and Reconstractive Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Alabdulrahman A; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Almuzzaini B; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
Alatwi N; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
AlBalwi MA; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Mar; Vol. 63 (3), pp. 103738. Date of Electronic Publication: 2019 Aug 14.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Limb Deformities, Congenital/*genetics
Proto-Oncogene Proteins/*genetics
Rare Diseases/*genetics
Wnt Proteins/*genetics
Codon, Nonsense ; Female ; Homozygote ; Humans ; Limb Deformities, Congenital/classification ; Limb Deformities, Congenital/diagnostic imaging ; Limb Deformities, Congenital/pathology ; Male ; Mutation, Missense ; Pedigree ; Phenotype ; RNA Splicing
SCR Disease Name :
Split-Hand-Foot Malformation 6
Czasopismo naukowe
Tytuł :
Thalidomide Inhibits Human iPSC Mesendoderm Differentiation by Modulating CRBN-dependent Degradation of SALL4.
Autorzy :
Belair DG; Nonclinical Development, Celgene Corporation, Summit, NJ, USA.
Lu G; Protein Homeostasis, Celgene Corporation, San Diego, CA, USA.
Waller LE; Cell Design Studio, MilliporeSigma, St. Louis, MO, USA.
Gustin JA; Cell Design Studio, MilliporeSigma, St. Louis, MO, USA.
Collins ND; Nonclinical Development, Celgene Corporation, Summit, NJ, USA.
Kolaja KL; Nonclinical Development, Celgene Corporation, Summit, NJ, USA. .
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Źródło :
Scientific reports [Sci Rep] 2020 Feb 18; Vol. 10 (1), pp. 2864. Date of Electronic Publication: 2020 Feb 18.
Typ publikacji :
Journal Article
MeSH Terms :
Adaptor Proteins, Signal Transducing/*genetics
Limb Deformities, Congenital/*genetics
Thalidomide/*pharmacology
Transcription Factors/*genetics
Ubiquitin-Protein Ligases/*genetics
Animals ; Carrier Proteins/genetics ; Cullin Proteins/genetics ; DNA-Binding Proteins/genetics ; Humans ; Induced Pluripotent Stem Cells/drug effects ; Lenalidomide/pharmacology ; Limb Deformities, Congenital/chemically induced ; Limb Deformities, Congenital/pathology ; Mice ; Multiprotein Complexes/drug effects ; Multiprotein Complexes/genetics ; Mutation/genetics ; Proteolysis/drug effects ; Rats ; Thalidomide/adverse effects
Czasopismo naukowe
Tytuł :
p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
Autorzy :
Bengur FB; Acibadem Mehmet Ali Aydinlar University School of Medicine, Istanbul, Turkey.
Ekmekci CG; Acibadem Genetic Diagnostic Centre, Istanbul, Turkey.
Karaarslan E; Acibadem Mehmet Ali Aydinlar University School of Medicine, Department of Radiology, Istanbul, Turkey.
Gunoz H; Istanbul University Faculty of Medicine, Growth-Development and Pediatric Endocrinology Unit, Istanbul, Turkey.
Alanay Y; Acibadem Mehmet Ali Aydinlar University School of Medicine, Department of Pediatrics, Pediatric Genetics Unit, Istanbul, Turkey. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Feb; Vol. 63 (2), pp. 103659. Date of Electronic Publication: 2019 Apr 30.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Achondroplasia/*diagnosis
Achondroplasia/*genetics
Bone and Bones/*abnormalities
Dwarfism/*diagnosis
Dwarfism/*genetics
Limb Deformities, Congenital/*diagnosis
Limb Deformities, Congenital/*genetics
Lordosis/*diagnosis
Lordosis/*genetics
Receptor, Fibroblast Growth Factor, Type 3/*genetics
Acanthosis Nigricans ; Achondroplasia/diagnostic imaging ; Amino Acid Sequence ; Bone and Bones/diagnostic imaging ; Dwarfism/diagnostic imaging ; Heterozygote ; Humans ; Hyperinsulinism ; Infant ; Limb Deformities, Congenital/diagnostic imaging ; Lordosis/congenital ; Lordosis/diagnostic imaging ; Male ; Phenotype ; Point Mutation ; Protein Domains ; Receptor, Fibroblast Growth Factor, Type 3/blood ; Sequence Analysis, DNA
SCR Disease Name :
Hypochondroplasia
Czasopismo naukowe
Tytuł :
Tympanoxyloid verruciform xanthoma is a distinct feature of CHILD nevus.
Autorzy :
Juratli HA; Department of Dermatology and Allergology, Philipp University, Marburg, Germany.
König A; Department of Dermatology and Allergology, Philipp University, Marburg, Germany.
Happle R; Department of Dermatology, Medical Center - University of Freiburg, Freiburg im Breisgau, Germany.
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Źródło :
Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2020 Feb; Vol. 34 (2), pp. e70-e72. Date of Electronic Publication: 2019 Oct 08.
Typ publikacji :
Letter
MeSH Terms :
Abnormalities, Multiple/*physiopathology
Genetic Diseases, X-Linked/*physiopathology
Ichthyosiform Erythroderma, Congenital/*physiopathology
Limb Deformities, Congenital/*physiopathology
Xanthomatosis/*physiopathology
3-Hydroxysteroid Dehydrogenases/genetics ; Abnormalities, Multiple/genetics ; Female ; Genetic Diseases, X-Linked/genetics ; Humans ; Ichthyosiform Erythroderma, Congenital/genetics ; Limb Deformities, Congenital/genetics ; Male ; Mutation ; Xanthomatosis/genetics
SCR Disease Name :
Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
Opinia redakcyjna
Tytuł :
Precise Resection of Macrodactyly Under Assistance of Three-Dimensional Reconstruction Technology: A Case Report.
Autorzy :
Yushan M; Surgeon, Department of Microrepair and Reconstruction, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, P.R. China.
Alike Y; Surgeon, Department of Microrepair and Reconstruction, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, P.R. China.
Keremu A; Surgeon, Orthopedic Center, The First People's Hospital of Kashi Prefecture, Kashi, Xinjiang, P.R. China.
Abulaiti A; Surgeon, Department of Microrepair and Reconstruction, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, P.R. China.
Ren P; Surgeon, Department of Microrepair and Reconstruction, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, P.R. China.
Yusufu A; Professor, Department of Microrepair and Reconstruction, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, P.R. China. Electronic address: .
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Źródło :
The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons [J Foot Ankle Surg] 2020 Jan - Feb; Vol. 59 (1), pp. 125-127.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Fingers/*abnormalities
Foot Deformities, Congenital/*surgery
Limb Deformities, Congenital/*surgery
Reconstructive Surgical Procedures/*methods
Amputation/methods ; Child ; Fingers/diagnostic imaging ; Fingers/surgery ; Foot Deformities, Congenital/diagnostic imaging ; Humans ; Imaging, Three-Dimensional/methods ; Limb Deformities, Congenital/diagnostic imaging ; Lower Extremity Deformities, Congenital/diagnostic imaging ; Lower Extremity Deformities, Congenital/surgery ; Magnetic Resonance Imaging ; Male ; Recovery of Function ; Surgery, Computer-Assisted/methods ; Toes/abnormalities ; Toes/diagnostic imaging ; Toes/surgery ; Tomography, X-Ray Computed
SCR Disease Name :
Megalodactyly
Czasopismo naukowe
Tytuł :
[Surgical Treatment of Congenital Cleft Foot - Case Study and Literature Review].
Autorzy :
Šponer P; Ortopedická klinika Lékařské fakulty Univerzity Karlovy a Fakultní nemocnice Hradec Králové.
Kučera T
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Transliterated Title :
Operační léčení vrozeného rozštěpu nohy – kazuistika a přehled literatury.
Źródło :
Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca [Acta Chir Orthop Traumatol Cech] 2020; Vol. 87 (1), pp. 58-61.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Hallux Valgus*/surgery
Limb Deformities, Congenital*/surgery
Metatarsal Bones*/surgery
Metatarsophalangeal Joint*/surgery
Child ; Female ; Foot ; Humans ; Male
SCR Disease Name :
Ectrodactyly
Czasopismo naukowe
Tytuł :
A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome.
Autorzy :
Al-Qattan MM; Division of Plastic Surgery at King Saud University, Riyadh, Saudi Arabia; Division of Plastic Surgery at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2020 Jan; Vol. 63 (1), pp. 103615. Date of Electronic Publication: 2019 Jan 14.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Abnormalities, Multiple/*genetics
Breast Diseases/*genetics
Limb Deformities, Congenital/*genetics
T-Box Domain Proteins/*genetics
Ulna/*abnormalities
Abnormalities, Multiple/physiopathology ; Breast Diseases/physiopathology ; Child ; Female ; Fingers/abnormalities ; Fingers/physiopathology ; Humans ; Limb Deformities, Congenital/physiopathology ; Mutation/genetics ; Phenotype ; Ulna/physiopathology
SCR Disease Name :
Ulnar-mammary syndrome
Czasopismo naukowe
Tytuł :
A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia.
Autorzy :
Song C; Department of Endocrinology and Genetic Metabolic Diseases, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, 400014, Chongqing, China.
Li N; Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 200127, Shanghai, China.
Hu X; Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, 100045, Beijing, China.
Shi Y; Department of Clinical Laboratory, Children's Hospital of Chongqing Medical University, 400014, Chongqing, China.
Chen L; Department of Endocrinology and Genetic Metabolic Diseases, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, 400014, Chongqing, China.
Zhou T; Department of Endocrinology and Genetic Metabolic Diseases, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, 400014, Chongqing, China.
Xu X; Department of Endocrinology and Genetic Metabolic Diseases, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, 400014, Chongqing, China.
Shen J; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA. Electronic address: .
Zhu M; Department of Endocrinology and Genetic Metabolic Diseases, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, 400014, Chongqing, China. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2019 Nov; Vol. 62 (11), pp. 103575. Date of Electronic Publication: 2018 Nov 12.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Bone Development/*genetics
Limb Deformities, Congenital/*diagnosis
Limb Deformities, Congenital/*genetics
Matrix Metalloproteinase 13/*genetics
Osteochondrodysplasias/*diagnosis
Osteochondrodysplasias/*genetics
Child ; Genotype ; Heterozygote ; Humans ; Limb Deformities, Congenital/diagnostic imaging ; Limb Deformities, Congenital/physiopathology ; Male ; Mutation/genetics ; Osteochondrodysplasias/diagnostic imaging ; Osteochondrodysplasias/physiopathology ; Osteogenesis/genetics ; Pedigree ; Phenotype
SCR Disease Name :
Metaphyseal anadysplasia
Czasopismo naukowe
Tytuł :
A Neonate with Prune Belly Syndrome and Limb Reduction Defect.
Autorzy :
Gaur BK; Department of Pediatrics, Maharishi Markandeshwar Institute of Medical Sciences and Research, Mullana, Ambala, Haryana, 133207, India. .
Singh G; Department of Pediatrics, Maharishi Markandeshwar Institute of Medical Sciences and Research, Mullana, Ambala, Haryana, 133207, India.
Maini B; Department of Pediatrics, Maharishi Markandeshwar Institute of Medical Sciences and Research, Mullana, Ambala, Haryana, 133207, India.
Antil PK; Department of Pediatrics, Maharishi Markandeshwar Institute of Medical Sciences and Research, Mullana, Ambala, Haryana, 133207, India.
Dhawan S; Department of Pediatrics, Maharishi Markandeshwar Institute of Medical Sciences and Research, Mullana, Ambala, Haryana, 133207, India.
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Źródło :
Indian journal of pediatrics [Indian J Pediatr] 2019 Nov; Vol. 86 (11), pp. 1056-1057. Date of Electronic Publication: 2019 Jun 08.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Limb Deformities, Congenital/*complications
Limb Deformities, Congenital/*physiopathology
Prune Belly Syndrome/*complications
Prune Belly Syndrome/*physiopathology
Abdominal Muscles/abnormalities ; Actins/genetics ; Early Diagnosis ; Genetic Predisposition to Disease/genetics ; Hepatocyte Nuclear Factor 1-beta/genetics ; Humans ; Infant, Newborn ; Limb Deformities, Congenital/diagnosis ; Limb Deformities, Congenital/embryology ; Male ; Prune Belly Syndrome/diagnosis ; Prune Belly Syndrome/embryology ; Receptor, Muscarinic M3
Raport
Tytuł :
The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature.
Autorzy :
Lai S; Department of Obstetrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen.
Zhang X; Department of Obstetrics, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen.
Feng L; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
He M; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Wang S; Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
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Źródło :
Medicine [Medicine (Baltimore)] 2020 Oct 16; Vol. 99 (42), pp. e22533.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Genetic Counseling*
Prenatal Diagnosis*
Limb Deformities, Congenital/*diagnosis
Limb Deformities, Congenital/*genetics
Abortion, Induced ; Chromosome Duplication ; Female ; Humans ; Pregnancy
SCR Disease Name :
Split hand foot deformity
Czasopismo naukowe
Tytuł :
ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.
Autorzy :
Holdener BC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA.
Percival CJ; Department of Anthropology, Stony Brook University, Stony Brook, NY 11794, USA.
Grady RC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA.
Cameron DC; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA.
Berardinelli SJ; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.
Zhang A; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.
Neupane S; Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA.
Takeuchi M; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.
Jimenez-Vega JC; Department of Bioengineering, Stony Brook University, Stony Brook, NY 11794, USA.
Uddin SMZ; Department of Orthopaedics, Stony Brook University, Stony Brook, NY 11794, USA.
Komatsu DE; Department of Orthopaedics, Stony Brook University, Stony Brook, NY 11794, USA.
Honkanen R; Department of Ophthalmology, Stony Brook University, Stony Brook, NY 11794, USA.
Dubail J; Department of Biomedical Engineering, Cleveland Clinic Lerner Institute, Cleveland, OH 44195, USA.
Apte SS; Department of Biomedical Engineering, Cleveland Clinic Lerner Institute, Cleveland, OH 44195, USA.
Sato T; National Institute of Advanced Industrial Science and Technology, Tokyo, Japan.
Narimatsu H; National Institute of Advanced Industrial Science and Technology, Tokyo, Japan.
McClain SA; Department of Dermatology and Department of Emergency Medicine, Stony Brook University, Stony Brook, NY 11794, USA.; Department of Emergency Medicine, Stony Brook University, Stony Brook, NY 11794, USA.
Haltiwanger RS; Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2019 Dec 15; Vol. 28 (24), pp. 4053-4066.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
ADAMTS Proteins/*metabolism
ADAMTS9 Protein/*metabolism
Cleft Lip/*metabolism
Cornea/*abnormalities
Glycosyltransferases/*deficiency
Growth Disorders/*metabolism
Limb Deformities, Congenital/*metabolism
Alleles ; Animals ; Cleft Lip/enzymology ; Cleft Lip/genetics ; Cornea/enzymology ; Cornea/metabolism ; Disease Models, Animal ; Female ; Fucosyltransferases/genetics ; Fucosyltransferases/metabolism ; Glycogen Debranching Enzyme System/metabolism ; Glycosyltransferases/genetics ; Glycosyltransferases/metabolism ; Growth Disorders/enzymology ; Growth Disorders/genetics ; Limb Deformities, Congenital/enzymology ; Limb Deformities, Congenital/genetics ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Mutation ; Organogenesis/genetics
SCR Disease Name :
Krause-Kivlin syndrome
Czasopismo naukowe
Tytuł :
Radial Ray Malformation.
Autorzy :
Gandhi M
Rac MWF
McKinney J
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Corporate Authors :
Society for Maternal-Fetal Medicine (SMFM)
Źródło :
American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2019 Dec; Vol. 221 (6), pp. B16-B18.
Typ publikacji :
Journal Article
MeSH Terms :
Carpal Bones/*abnormalities
Limb Deformities, Congenital/*diagnostic imaging
Radius/*abnormalities
Thumb/*abnormalities
Abnormalities, Drug-Induced/diagnosis ; Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Amniocentesis ; Amniotic Band Syndrome/complications ; Amniotic Band Syndrome/diagnosis ; Anal Canal/abnormalities ; Carpal Bones/diagnostic imaging ; Chorionic Villi Sampling ; Congenital Bone Marrow Failure Syndromes/complications ; Congenital Bone Marrow Failure Syndromes/diagnosis ; Congenital Bone Marrow Failure Syndromes/genetics ; Diagnosis, Differential ; Esophagus/abnormalities ; Fanconi Anemia/complications ; Fanconi Anemia/diagnosis ; Fanconi Anemia/genetics ; Female ; Genetic Testing ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Heart Septal Defects, Atrial/complications ; Heart Septal Defects, Atrial/diagnosis ; Heart Septal Defects, Atrial/genetics ; Humans ; Kidney/abnormalities ; Limb Deformities, Congenital/complications ; Limb Deformities, Congenital/diagnosis ; Limb Deformities, Congenital/genetics ; Lower Extremity Deformities, Congenital/complications ; Lower Extremity Deformities, Congenital/diagnosis ; Lower Extremity Deformities, Congenital/genetics ; Microarray Analysis ; Pregnancy ; Radius/diagnostic imaging ; Spine/abnormalities ; Thrombocytopenia/complications ; Thrombocytopenia/diagnosis ; Thrombocytopenia/genetics ; Thumb/diagnostic imaging ; Trachea/abnormalities ; Trisomy 13 Syndrome/complications ; Trisomy 13 Syndrome/diagnosis ; Trisomy 13 Syndrome/genetics ; Trisomy 18 Syndrome/complications ; Trisomy 18 Syndrome/diagnosis ; Trisomy 18 Syndrome/genetics ; Ultrasonography, Prenatal ; Upper Extremity Deformities, Congenital/complications ; Upper Extremity Deformities, Congenital/diagnosis ; Upper Extremity Deformities, Congenital/genetics ; Valproic Acid/adverse effects
SCR Disease Name :
Absent radii and thrombocytopenia; Ectrodactyly; Holt-Oram syndrome; VACTERL association; Valproic acid antenatal infection
Czasopismo naukowe
Tytuł :
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).
Autorzy :
Yamoto K; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Nishimura G; Center for Intractable Diseases, Saitama Medical University Hospital, Iruma, Japan.
Kosaki R; Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Takayama S; Division of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan.
Haga N; Department of Rehabilitation Medicine, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Tonoki H; Department of Pediatrics, Sapporo Tenshi Hospital, Sapporo, Japan.
Okumura A; Department of Pediatrics, Aichi Medical University, Nagakute, Japan.
Horii E; Department of Orthopedic Surgery, Nagoya First Red Cross Hospital, Nagoya, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Suzumura H; Department of Pediatrics, Dokkyo Medical University School of Medicine, Mibu, Japan.
Ikegawa S; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
Kato F; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Fujisawa Y; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Nagata E; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Takada S; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan. .; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan. .
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Dec; Vol. 27 (12), pp. 1845-1857. Date of Electronic Publication: 2019 Jul 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Hand Deformities, Congenital/*genetics
Limb Deformities, Congenital/*genetics
Low Density Lipoprotein Receptor-Related Protein-6/*genetics
Ubiquitin-Activating Enzymes/*genetics
Animals ; DNA Copy Number Variations/genetics ; Female ; Gene Rearrangement/genetics ; Hand Deformities, Congenital/diagnostic imaging ; Hand Deformities, Congenital/pathology ; Humans ; Limb Deformities, Congenital/diagnostic imaging ; Limb Deformities, Congenital/pathology ; Male ; Mice ; Pedigree ; Whole Exome Sequencing
SCR Disease Name :
Split hand foot deformity
Czasopismo naukowe
Tytuł :
VACTERL association complicated with multiple airway abnormalities: A case report.
Autorzy :
Yang L; Department of Pediatrics, West China Second University Hospital, Sichuan University.; Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry Education, West China Second University Hospital, Sichuan University.; Lab of Vascular Remodeling and Developmental Defects, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, Peoples' Republic of China.
Li S; Department of Pediatrics, West China Second University Hospital, Sichuan University.; Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry Education, West China Second University Hospital, Sichuan University.; Lab of Vascular Remodeling and Developmental Defects, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, Peoples' Republic of China.
Zhong L; Department of Pediatrics, West China Second University Hospital, Sichuan University.; Lab of Vascular Remodeling and Developmental Defects, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, Peoples' Republic of China.
Qiu L; Department of Pediatrics, West China Second University Hospital, Sichuan University.; Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry Education, West China Second University Hospital, Sichuan University.; Lab of Vascular Remodeling and Developmental Defects, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, Peoples' Republic of China.
Xie L; Department of Pediatrics, West China Second University Hospital, Sichuan University.; Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry Education, West China Second University Hospital, Sichuan University.; Lab of Vascular Remodeling and Developmental Defects, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, Peoples' Republic of China.
Chen L; Department of Pediatrics, West China Second University Hospital, Sichuan University.; Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry Education, West China Second University Hospital, Sichuan University.; Lab of Vascular Remodeling and Developmental Defects, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, Peoples' Republic of China.
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Źródło :
Medicine [Medicine (Baltimore)] 2019 Oct; Vol. 98 (42), pp. e17413.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Anal Canal/*abnormalities
Esophagus/*abnormalities
Heart Defects, Congenital/*diagnosis
Kidney/*abnormalities
Limb Deformities, Congenital/*diagnosis
Spine/*abnormalities
Trachea/*abnormalities
Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/etiology ; Airway Management/methods ; Bronchoscopy ; Heart Defects, Congenital/complications ; Heart Defects, Congenital/therapy ; Humans ; Infant ; Limb Deformities, Congenital/complications ; Limb Deformities, Congenital/therapy ; Male ; Oxygen Inhalation Therapy ; Thorax/abnormalities ; Thorax/diagnostic imaging ; Tibet ; Tomography, X-Ray Computed
SCR Disease Name :
VACTERL association
Czasopismo naukowe
Tytuł :
Folic acid supplementation and risk for congenital limb reduction defects in China.
Autorzy :
Liu J; Institute of Reproductive and Child Health/Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China.; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, P. R. China.
Li Z; Institute of Reproductive and Child Health/Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China.; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, P. R. China.
Ye R; Institute of Reproductive and Child Health/Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China.; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, P. R. China.
Ren A; Institute of Reproductive and Child Health/Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China.; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, P. R. China.
Liu J; Institute of Reproductive and Child Health/Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China.; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, P. R. China.
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Źródło :
International journal of epidemiology [Int J Epidemiol] 2019 Dec 01; Vol. 48 (6), pp. 2010-2017.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Dietary Supplements/*statistics & numerical data
Folic Acid/*therapeutic use
Limb Deformities, Congenital/*prevention & control
Vitamin B Complex/*therapeutic use
Adult ; China/epidemiology ; Cohort Studies ; Female ; Folic Acid/administration & dosage ; Gestational Age ; Humans ; Infant, Newborn ; Limb Deformities, Congenital/epidemiology ; Logistic Models ; Male ; Preconception Care/methods ; Pregnancy ; Vitamin B Complex/administration & dosage ; Young Adult
Czasopismo naukowe
Tytuł :
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.
Autorzy :
Sajan SA; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
Ganesh J; Division of Genetics, Cooper University Hospital, Camden, New Jersey, USA.
Shinde DN; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
Powis Z; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
Scarano MI; Division of Genetics, Cooper University Hospital, Camden, New Jersey, USA.
Stone J; Division of Genetics, Cooper University Hospital, Camden, New Jersey, USA.
Winter S; Valley Children's Hospital, Madera, California, USA.
Tang S; Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
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Źródło :
Journal of medical genetics [J Med Genet] 2019 Dec; Vol. 56 (12), pp. 850-854. Date of Electronic Publication: 2018 Nov 26.
Typ publikacji :
Journal Article
MeSH Terms :
Bone Diseases, Developmental/*genetics
Dwarfism/*genetics
Limb Deformities, Congenital/*genetics
Protein-Tyrosine Kinases/*genetics
Adolescent ; Bone Diseases, Developmental/physiopathology ; Branchial Region/metabolism ; Branchial Region/pathology ; Child, Preschool ; Codon, Nonsense/genetics ; Dwarfism/physiopathology ; Exome/genetics ; Homozygote ; Humans ; Limb Buds/metabolism ; Limb Deformities, Congenital/physiopathology ; Male ; RNA Splice Sites/genetics ; Whole Exome Sequencing
Czasopismo naukowe

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