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Article

Duane syndrome associated with Rubinstein-Taybi syndrome type II.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2024

Sharma Arjun, Suraneni Sanjana, Bitrian Elena, McKeown Craig A

Abstract excerpt

We report the case of an 8-month-old infant born at 33 weeks' gestation referred to our institution for evaluation of left eye abduction deficit and microcephaly. Ophthalmic examination revealed a left eye abduction deficit with palpebral fissure narrowing on adduction along with palpebral fissure widening on abduction, consistent with Duane syndrome. Genetic testing revealed a pathogenic EP300 mutation...

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Identifiers

PMID: 39182641
DOI: 10.1016/j.jaapos.2024.103990

Genes

EP300

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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