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Article

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

American journal of medical genetics. Part A - 1 Dec 2013

Izumi Kosuke, Lippa Andrew M, Wilkens Alisha, Feret Holly A, McDonald-McGinn Donna M, Zackai Elaine H

Abstract excerpt

Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1...

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Source

Identifiers

PMID: 24115525
DOI: 10.1002/ajmg.a.36159

Genes

GJA1

Variants

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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