Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination
作者： Mirei Shiki , Tokimasa Hida , Kokichi Sugano , Rie Kaneko , Takafumi Kamiya
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摘要: Background Muir-Torre syndrome (MTS) is characterized by sebaceous neoplasms with internal malignancies and regarded as a variant of hereditary nonpolyposis colorectal cancer (HNPCC). Pathogenic variations MTS have been identified in the MSH2, MLH1, MSH6 genes, majority located MSH2.
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