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Article

A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.

The Journal of investigative dermatology - 1 Oct 2003

Hu Guofang, Onder Meltem, Gill Melissa, Aksakal Burhan, Oztas Murat, Gürer M Ali, Celebi Jülide Tok

Abstract excerpt

Brooke-Spiegler syndrome (BSS, familial cylindromatosis or turban tumor syndrome) is an inherited disease characterized by neoplasms of the skin appendages such as cylindroma, trichoepithelioma, and spiradenoma. The disease has been mapped to 16q12-13, and mutations in the CYLD gene have been identified in families with this disorder. Of interest, multiple familial trichoepithelioma (MFT) has been described as a...

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Share to Carcinoma, Adenoid Cystic
Share to Deubiquitinating Enzyme CYLD

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Share to Skin Neoplasms

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Source

Identifiers

PMID: 14632188
DOI: 10.1046/j.1523-1747.2003.12514.x

Genes

CYLD

Variants

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.

Related research

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A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome.PMID 14632188Read ↗

Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.Semantic proximity Read ↗

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.Semantic proximity Read ↗

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.Semantic proximity Read ↗

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

Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.Semantic proximity Read ↗

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.Semantic proximity Read ↗

Brooke-Spiegler Syndrome and Phenotypic Variants: An Update.Semantic proximity Read ↗

Large germline deletions of the CYLD gene in patients with Brooke-Spiegler syndrome and multiple familial trichoepithelioma.Semantic proximity Read ↗

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.Semantic proximity Read ↗

Brooke-Spiegler Syndrome: Report of 10 Patients From 8 Families With Novel Germline MutationsSemantic proximity Read ↗

Brooke‐Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor‐suppressor genesSemantic proximity Read ↗

Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.Semantic proximity Read ↗

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