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Article

Expansion of the CHN1 strabismus phenotype.

Investigative ophthalmology & visual science - 11 Aug 2011

Miyake Noriko, Demer Joseph L, Shaaban Sherin, Andrews Caroline, Chan Wai-Man, Christiansen Stephen P, Hunter David G, Engle Elizabeth C

Abstract excerpt

PURPOSE: Hyperactivating CHN1 mutations have been described in individuals with Duane retraction syndrome with or without vertical gaze abnormalities. This was a study of five family members with distinctive ocular dysmotility patterns that co-segregated with a novel hyperactivating CHN1 mutation. METHODS: Participating members of a family segregating pleomorphic incomitant strabismus underwent ophthalmic...

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Source

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Identifiers

PMID: 21715346
DOI: 10.1167/iovs.11-7950
PMCID: PMC3175992

Genes

CHN1

Variants

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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