Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.
Autorzy:
Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Abramson Research Building, Suite 1016I, 3615 Civic Center Boulevard, Philadelphia, PA, 19104-4318, USA. .; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. .; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. . Strong A; Center for Applied Genomics, The Children's Hospital of Philadelphia, Abramson Research Building, Suite 1016I, 3615 Civic Center Boulevard, Philadelphia, PA, 19104-4318, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Hou C; Center for Applied Genomics, The Children's Hospital of Philadelphia, Abramson Research Building, Suite 1016I, 3615 Civic Center Boulevard, Philadelphia, PA, 19104-4318, USA. Downes H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Abramson Research Building, Suite 1016I, 3615 Civic Center Boulevard, Philadelphia, PA, 19104-4318, USA. PritchardAB; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan Health, Ann Arbor, MI, USA. Mazzeo P; Division of General Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Zackai EH; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. Conlin LK; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Abramson Research Building, Suite 1016I, 3615 Civic Center Boulevard, Philadelphia, PA, 19104-4318, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
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Źródło:
Molecular cytogenetics [Mol Cytogenet] 2022 Aug 05; Vol. 15 (1), pp. 33. Date of Electronic Publication: 2022 Aug 05.
Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency.
Autorzy:
PritchardAB; Present address: C.S. Mott Children's Hospital, Michigan Medicine, 1500 E Medical Center Dr, Ann Arbor, MI, 48109, USA. Strong A; Division of Human Genetics and Metabolism, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA. Ficicioglu C; Division of Human Genetics and Metabolism, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Feb 24; Vol. 15 (1), pp. 58. Date of Electronic Publication: 2020 Feb 24.
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