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Article

Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43.

Journal of dental research - 1 Jul 2012

Amano K, Ishiguchi M, Aikawa T, Kimata M, Kishi N, Fujimaki T, Murakami A, Kogo M

Abstract excerpt

Oculodentodigital Dysplasia (ODDD) is a rare syndrome involving anomalies in eye, tooth, and digit formation, caused by mutations in CX43/GJA1. In addition to classic dental features, ODDD includes oral and craniofacial accessory symptoms such as characteristic facial appearance and cleft palate. However, there have been no reports of ODDD accompanied by cleft lip. Herein we report, for the first time, a male,...

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Source

Identifiers

PMID: 22699666
DOI: 10.1177/0022034512447952

Genes

GJA1
BMP4
MSX1

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.

Related research

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Research trail→

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Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43.PMID 22699666Read ↗

Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.Semantic proximity Read ↗

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.Semantic proximity Read ↗

Syndromic and non-syndromic disease-linked Cx43 mutations.Semantic proximity Read ↗

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.Semantic proximity Read ↗

Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).Semantic proximity Read ↗

Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.Semantic proximity Read ↗

A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.Semantic proximity Read ↗

Connexins and Disease.Semantic proximity Read ↗

Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.Semantic proximity Read ↗

Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.Semantic proximity Read ↗

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.Semantic proximity Read ↗

Phenotypic and Molecular Features of a Large ODDD Family: Expanding the Spectrum of CX43-Related Disorder.Semantic proximity Read ↗

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