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Article

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

Clinical genetics - 1 Feb 2002

Lebel R R, May M, Pouls S, Lubs H A, Stevenson R E, Schwartz C E

Abstract excerpt

Three brothers with non-syndromal X-linked mental retardation were found to have a novel missense mutation in FGD1, the gene associated with the Aarskog syndrome. Although the brothers have short stature and small feet, they lack distinct craniofacial, skeletal or genital findings suggestive of Aarskog syndrome. Their mother, the only obligate carrier available for testing, has the FGD1 mutation. The mutation, a...

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Source

Identifiers

PMID: 11940089
DOI: 10.1034/j.1399-0004.2002.610209.x

Genes

FGD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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