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Article

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

BMC medical genetics - 4 May 2016

Dalamón Viviana Karina, Buonfiglio Paula, Larralde Margarita, Craig Patricio, Lotersztein Vanesa, Choate Keith, Pallares Norma, Diamante Vicente, Elgoyhen Ana Belén

Abstract excerpt

BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described. CASE PRESENTATION: We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over...

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Identifiers

PMID: 27141831
DOI: 10.1186/s12881-016-0298-y
PMCID: PMC4855445

Genes

GJB2

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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Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.PMID 27141831Read ↗

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