Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene
✍ Scribed by N Ronce; I Maystadt; C Hubert; S Vonwill; K Devriendt; M-P Moizard; M Raynaud
- Book ID
- 115091979
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 662 KB
- Volume
- 82
- Category
- Article
- ISSN
- 0009-9163
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## Abstract Mutations in the __FGD1__ gene have been shown to cause Aarskog–Scott syndrome (AAS), or facio‐digito‐genital dysplasia (OMIM#305400), an X‐linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date
## Abstract Aarskog‐Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and genital anomalies. The X‐linked form is caused by mutations of the __FGD1__ gene. Although clinical manifestations an