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Article

Severe Phenotype of Keratitis-Ichthyosis-Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia.

Cornea - 1 Feb 2018

Serrano-Ahumada Ana Silvia, Cortes-González Vianney, González-Huerta Luz María, Cuevas Sergio, Aguilar-Lozano Luis, Villanueva-Mendoza Cristina

Abstract excerpt

PURPOSE: The aim of this study was to describe a case of severe keratitis-ichthyosis-deafness (KID) syndrome with ocular surface squamous neoplasia. METHODS: The affected patient underwent complete ocular and systemic examinations. The molecular studies included polymerase chain reaction amplification and automated DNA sequencing of the complete gap junction beta-2 (GJB2) gene coding sequence. RESULTS: A...

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Source

Identifiers

PMID: 29023238
DOI: 10.1097/ICO.0000000000001387

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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