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Article

Somatic Mosaicism for a "Lethal" GJB2 Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement.

Pediatric dermatology - 1 May 2016

Eskin-Schwartz Marina, Metzger Yoav, Peled Alon, Weissglas-Volkov Daphna, Malchin Natalia, Gat Andrea, Vodo Dan, Mevorah Baruch, Shomron Noam, Sprecher Eli, Sarig Ofer

Abstract excerpt

BACKGROUND: Spiny hyperkeratosis refers to a rare clinical phenotype characterized by nonfollicular keratotic projections and sometimes associated with other acquired and inherited conditions. We describe a case of congenital patterned spiny hyperkeratosis. METHODS: To identify the cause of this disorder, we used a combination of whole exome sequencing, direct sequencing and TaqMan assay. RESULTS: We found that...

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Identifiers

PMID: 27087580
DOI: 10.1111/pde.12848

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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