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Article

Gene symbol: GJA1. Disease: oculodentodigital dysplasia.

Human genetics - 1 Feb 2005

Pontillo A, Flex E, Miertus J

Abstract excerpt

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Topics

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15818811

Genes

GJA1

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gene symbol: GJA1. Disease: oculodentodigital dysplasia.PMID 15818811Read ↗

Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.Semantic proximity Read ↗

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

A novel GJA 1 mutation in oculodentodigital dysplasia with extensive loss of enamelSemantic proximity Read ↗

Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature.Semantic proximity Read ↗

Novel mutations in GJA1 in two Brazilian families with oculodentodigital dysplasia.Semantic proximity Read ↗

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

A Novel Mutation in the GJA1 Gene in a Family With Oculodentodigital DysplasiaSemantic proximity Read ↗

[A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia].Semantic proximity Read ↗

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

Clinical and genetic variability of oculodentodigital dysplasia.Semantic proximity Read ↗

Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.Semantic proximity Read ↗

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

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