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Article

Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.

Acta dermato-venereologica - 1 Sept 2014

Mazereeuw-Hautier Juliette, Chiaverini Christine, Jonca Nathalie, Bieth Eric, Dreyfus Isabelle, Maza Aude, Cardot-Leccia Nathalie, Perrin Christophe, Lacour Jean-Philippe

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24531573
DOI: 10.2340/00015555-1818

Genes

GJB2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe.PMID 24531573Read ↗

Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report.Semantic proximity Read ↗

Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.Semantic proximity Read ↗

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

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

Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.Semantic proximity Read ↗

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

The homozygous p. V37I variant of GJB2 is associated with diverse hearing phenotypesSemantic proximity Read ↗

Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome.Semantic proximity Read ↗

Connexin 26 (GJB2) mutations in keratitis-ichthyosis-deafness syndrome presenting with squamous cell carcinoma.Semantic proximity Read ↗

Functional analysis of a novel I71N mutation in the GJB2 gene among Southern Egyptians causing autosomal recessive hearing loss.Semantic proximity Read ↗

A Novel Connexin 26 Mutation in a Patient Diagnosed 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 ↗

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