- Tytuł :
- Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.
- Autorzy :
- Źródło :
- BMJ case reports [BMJ Case Rep] 2020 Jun 30; Vol. 13 (6). Date of Electronic Publication: 2020 Jun 30.
- Typ publikacji :
- Case Reports; Journal Article
- MeSH Terms :
-
Dwarfism*/diagnosis
Dwarfism*/genetics
Dwarfism*/physiopathology
Dwarfism*/psychology
Genetic Diseases, X-Linked*/diagnosis
Genetic Diseases, X-Linked*/genetics
Genetic Diseases, X-Linked*/physiopathology
Genetic Diseases, X-Linked*/psychology
Heart Defects,Congenital */diagnosis
Heart Defects,Congenital */genetics
Heart Defects,Congenital */physiopathology
Heart Defects,Congenital */psychology
Face/*abnormalities
Genitalia, Male/*abnormalities
Guanine Nucleotide Exchange Factors/*genetics
Hand Deformities,Congenital /*diagnosis
Patient Care Management/*methods
Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Adult ; Biological Variation, Population ; Child Development ; Diagnosis, Differential ; Face/physiopathology ; Female ; Genes, Duplicate ; Genitalia, Male/physiopathology ; Hand Deformities,Congenital /genetics ; Hand Deformities,Congenital /physiopathology ; Hand Deformities,Congenital /psychology ; Humans ; Infant ; Male ; Mutation ; Pedigree ; Psychosocial Support Systems - SCR Disease Name :
- Aarskog Syndrome
-
Czasopismo naukowe