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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

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