Article
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
American journal of medical genetics. Part A - 1 Feb 2010
Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri S M, Hertz J M, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V
Abstract excerpt
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, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In...
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