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Article

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

International journal of dermatology - 1 Jun 2020

de Oliveira Renan Tironi G, Christofolini Denise Maria, Criado Paulo R, Lacaz Martins Eduardo, Kelsell David, Machado Filho Carlos D'Apparecida Santos

Abstract excerpt

BACKGROUND: Erythrokeratodermas are a heterogeneous group of keratinization disorders. They are inherited in both autosomal dominant and autosomal recessive pattern. Erythrokeratoderma variabilis et progressive (EKVP) is a disorder caused by variations in genes that codify connexins (GJA1, GJB3, GJB4). The distinction between different phenotypes is not always simple. Age of presentation varies from birth to...

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PMID: 32311086
DOI: 10.1111/ijd.14894

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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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