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Article

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

European journal of medical genetics - 1 Jan 2000

Jonard Laurence, Feldmann Delphine, Parsy Christophe, Freitag Sylvie, Sinico Martine, Koval Céleste, Grati Mhamed, Couderc Remy, Denoyelle Françoise, Bodemer Christine, Marlin Sandrine, Hadj-Rabia Smail

Abstract excerpt

Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect. KID consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. A rare form of the KID syndrome is a fatal course in the first year of life due to severe skin lesion infections and septicaemia. KID appears to be genetically heterogeneous and may be caused by mutations in connexin...

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Source

Identifiers

PMID: 18024254
DOI: 10.1016/j.ejmg.2007.09.005

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.PMID 18024254Read ↗

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

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

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.Semantic proximity Read ↗

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