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Article

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.

Nature genetics - 1 Dec 1998

Richard G, Smith L E, Bailey R A, Itin P, Hohl D, Epstein E H, DiGiovanna J J, Compton J G, Bale S J

Abstract excerpt

Erythrokeratodermia variabilis (EKV, OMIM 133200) is an autosomal dominant genodermatosis with considerable intra- and interfamilial variability. It has a disfiguring phenotype characterized by the independent occurrence of two morphologic features: transient figurate red patches and localized or generalized hyperkeratosis. Both features can be triggered by external factors such as trauma to the skin. After...

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Source

Identifiers

PMID: 9843209
DOI: 10.1038/3840

Genes

GJB3
GJA4
GJB5

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.

Related research

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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.PMID 9843209Read ↗

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

Clinical and genetic heterogeneity of erythrokeratoderma variabilis.Semantic proximity Read ↗

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

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

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.Semantic proximity Read ↗

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

Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.Semantic proximity Read ↗

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.Semantic proximity Read ↗

[Erythrokeratodermia variabilis (EKV)--a disorder due to altered epidermal expression of gap junction proteins].Semantic proximity Read ↗

Novel mutation in GJB4 gene (connexin 30.3) in a family with erythrokeratodermia variabilis.Semantic proximity Read ↗

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