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[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG - 1 Feb 2005

Binder Barbara, Hennies Hans Christian, Kraschl Raimund, Smolle Josef

Abstract excerpt

BACKGROUND: Keratitis-ichthyosis-deafness syndrome (KID syndrome) is an extremely rare disorder. Inheritance is autosomal dominant but many cases occur sporadically following a spontaneous mutation. The cause of KID syndrome are missense mutations of the gene GJB2, encoding connexin 26. PATIENTS AND METHODS: We clinically studied two cases of KID syndrome and extracted genomic DNA from peripheral blood. RESULTS:...

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Connexin 26
Connexins
Deafness
Genetic Predisposition to Disease
Ichthyosis

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Identifiers

PMID: 16351012
DOI: 10.1111/j.1610-0378.2005.04748.x

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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[Connexin 26 mutation and keratitis-ichthyosis-deafness (KID) syndrome].PMID 16351012Read ↗

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

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 ↗

Genotype-Phenotype Correlations, Mortality, and Clinical Insights in Keratitis-Ichthyosis-Deafness Syndrome: A Comprehensive Review and Case Report.Semantic proximity Read ↗

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

Keratitis-ichthyosis-deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p.Asp50Asn 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 ↗

KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.Semantic proximity Read ↗

A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness SyndromeSemantic proximity Read ↗

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GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.Semantic proximity Read ↗

A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome.Semantic proximity Read ↗

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