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Article

PAK3 related mental disability: further characterization of the phenotype.

American journal of medical genetics. Part A - 15 Oct 2007

Peippo Maarit, Koivisto Anne M, Särkämö Teppo, Sipponen Marjatta, von Koskull Harriet, Ylisaukko-oja Tero, Rehnström Karola, Froyen Guy, Ignatius Jaakko, Järvelä Irma

Abstract excerpt

We report clinical, neuropsychological and molecular findings in affected males and carrier females in the fourth reported family with mental retardation caused by mutation in the PAK3 gene (Xq22.3-q23), W446S. In contrast to previous reports, carrier females manifested learning problems and mild...

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Source

Identifiers

PMID: 17853471
DOI: 10.1002/ajmg.a.31956

Genes

PAK3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17853471-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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