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Article

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.

Clinical genetics - 1 Sept 2006

Young A L, Kellermayer R, Szigeti R, Tészás A, Azmi S, Celebi J T

Abstract excerpt

Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct inherited disorders, are characterized by a variety of skin appendage neoplasms. Mutations in the CYLD gene are found in individuals with these syndromes. We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a...

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Source

Identifiers

PMID: 16922728
DOI: 10.1111/j.1399-0004.2006.00667.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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CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.PMID 16922728Read ↗

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

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

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

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

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

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

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