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Article

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome.

Ophthalmic genetics - 1 Jun 2015

Abu-Amero Khaled K, Kondkar Altaf, Hellani Ali M, Oystreck Darren T, Khan Arif O, Bosley Thomas M

Abstract excerpt

BACKGROUND: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome and modest dysmorphism. MATERIALS AND METHODS: Clinical evaluation, sequencing of candidate genes, and array comparative genomic hybridization (array CGH). RESULTS: The proband had unilateral Duane retraction syndrome (DRS) with low-set ears bilaterally, a high arched palate, and...

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Source

Identifiers

PMID: 24001015
DOI: 10.3109/13816810.2013.835431

Genes

CHN1
CHRNB3
HOXA1
SALL4
TUBB3

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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