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Article

Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie - 1 Sept 2010

Volk Alexander E, Fricke Julia, Strobl Judith, Kolling Gerold, Kubisch Christian, Neugebauer Antje

Abstract excerpt

BACKGROUND: Mutations in the gene CHN1 have been described in autosomal dominant Duane's retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various...

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Identifiers

PMID: 20535495
DOI: 10.1007/s00417-010-1417-7

Genes

CHN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20535495-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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