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Article

Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome.

Ophthalmic genetics - 1 Sept 2014

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

Abstract excerpt

BACKGROUND: Duane retraction syndrome (DRS) is the most common of the congenital cranial dysinnervation disorders (CCDDs). CCDDs can be monogenic or chromosomal in origin. Identification of the genetic cause(s) in patients and families with DRS facilitates definitive diagnosis and provides insights into these developmental errors. MATERIALS AND METHODS: This study described a young girl with DRS on the left and...

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Source

Identifiers

PMID: 24865192
DOI: 10.3109/13816810.2014.921317

Genes

CHN1
HOXA1
PPARA
RNF34
SALL4
TUBB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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