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Article

Mandibular dysostosis without microphthalmia caused by OTX2 deletion.

American journal of medical genetics. Part A - 1 Sept 2016

Latypova Xénia, Bordereau Sylvain, Bleriot Alice, Pichon Olivier, Poulain Damien, Briand Annaïg, Le Caignec Cédric, Isidor Bertrand

Abstract excerpt

Mutations in OTX2 are mostly identified in patients with anophthalmia/microphthalmia with variable severity. The OTX2 homeobox gene plays a crucial role in craniofacial morphogenesis during early embryo development. We report for the first time a patient with a mandibular dysostosis caused by a 120 kb deletion including the entire coding sequence of OTX2, identified by array CGH. No ocular malformations were...

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Source

Identifiers

PMID: 27378064
DOI: 10.1002/ajmg.a.37837

Genes

OTX2

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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