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Article

Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.

Experimental dermatology - 1 Dec 2006

Zhang Guolong, Huang Yijin, Yan Kailin, Li Wei, Fan Xing, Liang Yanhua, Sun Liangdan, Li Hui, Zhang Shumei, Gao Min, Du Wenhui, Yang Sen, Liu Jianjun, Zhang Xuejun

Abstract excerpt

Brooke-Spiegler syndrome (BSS) is an autosomal dominant disease characterized by cylindromas, trichoepitheliomas and occasionally spiradenomas. The disease gene was mapped to 16q12-13, and mutations in the CYLD gene were identified in families with BSS. In the present report, we describe a large consanguineous Chinese family with BSS showing an intra-family phenotypic variability. Clinically, some affected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17083363
DOI: 10.1111/j.1600-0625.2006.00501.x

Genes

CYLD

Provenance

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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Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.PMID 17083363Read ↗

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