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• W2006211913 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." @default.
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• W2006211913 date "2006-08-10" @default.
• W2006211913 modified "2023-10-11" @default.
• W2006211913 title "CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes" @default.
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• W2006211913 doi "https://doi.org/10.1111/j.1399-0004.2006.00667.x" @default.
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