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Article

Clinical and genetic heterogeneity of erythrokeratoderma variabilis.

The Journal of investigative dermatology - 1 Nov 2005

Common John E A, O'Toole Edel A, Leigh Irene M, Thomas Anna, Griffiths William A D, Venning Vanessa, Grabczynska Sophie, Peris Zdravko, Kansky Aleksej, Kelsell David P

Abstract excerpt

The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively. Gap junctions composed of Cx proteins are intracellular channels providing a mechanism of synchronized cellular response facilitating metabolic and electronic functions of the cell. In the skin, Cx31 and Cx30.3 are expressed in the stratum...

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Source

Identifiers

PMID: 16297190
DOI: 10.1111/j.0022-202X.2005.23919.x

Genes

GJB3
GJB4

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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Clinical and genetic heterogeneity of erythrokeratoderma variabilis.PMID 16297190Read ↗

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.Semantic proximity Read ↗

Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.Semantic proximity Read ↗

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.Semantic proximity Read ↗

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.Semantic proximity Read ↗

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.Semantic proximity Read ↗

Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.Semantic proximity Read ↗

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis.Semantic proximity Read ↗

Novel mutation of connexin 31 causing erythrokeratoderma variabilis.Semantic proximity Read ↗

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