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Article

Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Jun 2009

Murillo-Correa Claudia E, Kon-Jara Veronica, Engle Elizabeth C, Zenteno Juan C

Abstract excerpt

PURPOSE: We describe the clinical phenotype of a Mexican family segregating Duane syndrome as an autosomal-dominant trait linked to chromosome 2q31 (DURS2) and previously reported to harbor a heterozygous alpha2-chimaerin missense mutation. METHODS: A 5-generation Mexican family was analyzed. Ten affected subjects were available for clinical examination. Participating subjects were tested for visual acuity,...

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Source

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Identifiers

PMID: 19541263
DOI: 10.1016/j.jaapos.2009.03.007
PMCID: PMC2702258

Genes

CHN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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