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Article

Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.

The Journal of investigative dermatology - 1 May 2004

Jan Amy Y, Amin Shivan, Ratajczak Paulina, Richard Gabriele, Sybert Virginia P

Abstract excerpt

Connexins are integral membrane proteins forming aqueous gap junction channels that allow the diffusional exchange of ions and small metabolites between cells, thus coordinating metabolic activities in multicellular tissues. Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel syndrome....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15140211
DOI: 10.1111/j.0022-202X.2004.22518.x

Genes

GJB6
GJB2

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.PMID 15140211Read ↗

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.Semantic proximity Read ↗

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.Semantic proximity Read ↗

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.Semantic proximity Read ↗

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.Semantic proximity Read ↗

A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.Semantic proximity Read ↗

Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings.Semantic proximity Read ↗

A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.Semantic proximity Read ↗

Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin.Semantic proximity Read ↗

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndromeSemantic proximity Read ↗

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.Semantic proximity Read ↗

The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome.Semantic proximity Read ↗

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn GJB2 mutation.Semantic proximity Read ↗

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