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- Title
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes.
- Authors
Young, A L; Kellermayer, R; Szigeti, R; Tészás, A; Azmi, S; Celebi, J T
- Abstract
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 mutation in the CYLD gene. These findings support the notion that BSS, FC, and MFT represent phenotypic variation of a single defect. Of interest, one of the affected individuals described in this report exhibits a severe phenotype illustrating the morbidity of the disorder.
- Publication
Clinical genetics, 2006, Vol 70, Issue 3, p246
- ISSN
0009-9163
- Publication type
Journal Article
- DOI
10.1111/j.1399-0004.2006.00667.x