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Article

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.

European journal of pediatrics - 1 Oct 2014

Völter Christiane, Martínez Ramón, Hagen Rudolf, Kress Wolfram

Abstract excerpt

UNLABELLED: Aarskog syndrome (AAS) is an X-linked human disease that affects the skeletal formation and embryonic morphogenesis and is caused by mutations in the FGD1 gene. Patients typically show distinctive skeletal and genital developmental abnormalities, but a broad spectrum of clinical pheno...

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Source

Identifiers

PMID: 24770546
DOI: 10.1007/s00431-014-2317-3

Genes

FGD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24770546-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.PMID 24770546Read ↗

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

Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.Semantic proximity Read ↗

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

Case Report: A Novel FGD1 c.16G>A Variant Associated With Atypical Aarskog-Scott Syndrome in a Chinese ToddlerSemantic proximity Read ↗

FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.Semantic proximity Read ↗

The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.Semantic proximity Read ↗

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.Semantic proximity Read ↗

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.Semantic proximity Read ↗

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.Semantic proximity Read ↗

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