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Article

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.

Journal of human genetics - 1 Apr 2015

Sergouniotis Panagiotis I, Urquhart Jill E, Williams Simon G, Bhaskar Sanjeev S, Black Graeme C, Lovell Simon C, Whitby David J, Newman William G, Clayton-Smith Jill

Abstract excerpt

Agnathia-otocephaly complex is a malformation characterized by absent/hypoplastic mandible and abnormally positioned ears. Mutations in two genes, PRRX1 and OTX2, have been described in a small number of families with this disorder. We performed clinical and genetic testing in an additional family. The proband is a healthy female with a complicated pregnancy history that includes two offspring diagnosed with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25589041
DOI: 10.1038/jhg.2014.122

Genes

OTX2
PRRX1

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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