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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...

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Source

Identifiers

PMID: 20082460
DOI: 10.1002/ajmg.a.33199

Genes

FGD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20082460-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.PMID 20082460Read ↗

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