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Article

Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene.

The British journal of dermatology - 1 Nov 2004

Oiso N, Mizuno N, Fukai K, Nakagawa K, Ishii M

Abstract excerpt

Familial cylindromatosis is a rare dominantly inherited disease characterized by the development of multiple benign tumours of the skin appendages, including cylindromas, trichoepitheliomas and spiradenomas. The gene responsible was positionally cloned recently, and was designated CYLD. We describe a family with cylindromatosis, in which affected individuals have an inherited R758X nonsense mutation of CYLD....

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Share to Carcinoma, Adenoid Cystic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deubiquitinating Enzyme CYLD

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Share to Neoplastic Syndromes, Hereditary

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Source

Identifiers

PMID: 15541090
DOI: 10.1111/j.1365-2133.2004.06231.x

Genes

CYLD

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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Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene.PMID 15541090Read ↗

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