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Article

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

European journal of human genetics : EJHG - 1 Jan 2004

Orrico Alfredo, Galli Lucia, Cavaliere Maria Luigia, Garavelli Livia, Fryns Jean-Pierre, Crushell Ellen, Rinaldi Maria Michela, Medeira Ana, Sorrentino Vincenzo

Abstract excerpt

Faciogenital dysplasia or Aarskog-Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-linked form of AAS has been ascribed to mutations in the FGD1 gene. However, although AAS may be considered as a relatively frequent clinical diagnosis, mutations have been establis...

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Share to Craniofacial Abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Guanine Nucleotide Exchange Factors

Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 14560308
DOI: 10.1038/sj.ejhg.5201081

Genes

FGD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14560308-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

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

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