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Article

Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2000

Esmer Carmen, Salas-Alanis Julio C, Fajardo-Ramirez Oscar R, Ramírez Brenda, Hua Rong, Choate Keith

Abstract excerpt

Keratitis-ichthyosis-deafness syndrome is a well-characterized disease that has been related to mutations in the GJB6 gene. Clinical features such as erythrokeratoderma, palmoplantar keratoderma, alopecia, and progressive vascularizing keratitis, among others, are well known in this entity. In this report we describe a newborn female patient diagnosed with keratitis-ichthyosis-deafness syndrome with a lethal...

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Identifiers

PMID: 27409001

Genes

GJB6

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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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Lethal Keratitis, Ichthyosis, and Deafness Syndrome Due to the A88V Connexin 26 Mutation.PMID 27409001Read ↗

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