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  • Title: A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.
    Author: Wang FX, Yang LJ, Li M, Zhang SL, Zhu XH.
    Journal: Arch Dermatol Res; 2010 Jan; 302(1):67-70. PubMed ID: 19911186.
    Abstract:
    Multiple familial trichoepithelioma (MFT, OMIM 601606) is an autosomal dominantly inherited disease. It is characterized by numerous skin-colored papules on the central face. Pathogenic mutations in the CYLD gene have been identified. In this report, we identified a novel mutation of CYLD gene in a Chinese family with MFT. It is a novel heterozygous nucleotide G-->A transition at position 2,317 in exon 17 of the CYLD gene. Our study expands the database on the CYLD gene mutations in MFT.
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