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Article

Syndromic and non-syndromic disease-linked Cx43 mutations.

FEBS letters - 17 Apr 2014

Laird Dale W

Abstract excerpt

There are now at least 14 distinct diseases linked to germ line mutations in the 21 genes that encode the connexin (Cx) family of gap junction proteins. This review focuses on the links between germ-line mutations in the gene encoding Cx43 (GJA1) and the human disease termed oculodentodigital dysplasia (ODDD). This disease is clinically characterized by soft tissue fusion of the digits, abnormal craniofacial bone...

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Source

Identifiers

PMID: 24434540
DOI: 10.1016/j.febslet.2013.12.022

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.

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