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Article

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

American journal of medical genetics - 1 Nov 2002

Turner Gillian, Partington Michael, Kerr Bronwyn, Mangelsdorf Marie, Gecz Jozef

Abstract excerpt

Two families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three ot...

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Source

Identifiers

PMID: 12376946
DOI: 10.1002/ajmg.10714

Genes

ARX
GCG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12376946-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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