Article
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma.
Clinical and experimental dermatology - 1 Jan 2009
Huang T-M, Chao S-C, Lee J Y-Y
Abstract excerpt
Multiple familial trichoepithelioma (MFT) is an autosomal dominant disease characterized by numerous skin-coloured papules on the central face. Mutations in the CYLD gene, which is also the gene responsible for familial cylindromatosis, have been reported recently. Recent studies indicate that CYLD is a tumour-suppressor gene. The CYLD protein is a negative regulator of the activation of transcription factor...
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