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Article

A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma.

Archives of dermatological research - 1 Nov 2014

Wu J W, Xiao S X, Huo J, An J G, Ren J W

Abstract excerpt

Multiple familial trichoepithelioma (MFT) (OMIM: 601606) is an autosomal dominantly inherited disorder characterized by numerous, skin-colored papules and nodules with pilar differentiation. Recently, several mutations in the cylindromatosis (CYLD) gene have been reported in MFT. In this study, a mutation analysis of the CYLD was conducted in a Chinese pedigree of typical MFT. Affected individuals were identified...

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Source

Identifiers

PMID: 25234269
DOI: 10.1007/s00403-014-1499-x

Genes

CYLD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Multiple trichoepitheliomas--a novel mutation in the CYLD gene.Semantic proximity Read ↗

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