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Article

Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.

American journal of medical genetics - 14 Aug 2000

Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers H H, Moraine C, van Bokhoven H, Fryns J P, Allen K, Walsh C A, Boué J, Kahn A, Chelly J, Beldjord C

Abstract excerpt

X-linked mental retardation is a very common condition that affects approximately 1 in 600 males. Despite recent progress, in most cases the molecular defects underlying this disorder remain unknown. Recently, a study using the candidate gene approach demonstrated the presence of mutations in PAK3 (p21-activating kinase) associated with nonspecific mental retardation. PAK3 is a member of the larger family of PAK...

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Source

Identifiers

PMID: 10946356
DOI: 10.1002/1096-8628(20000814)93:4<294::aid-ajmg8>3.0.co;2-f

Genes

PAK3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.PMID 10946356Read ↗

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