遗传性皮肤病
医学
桑格测序
结直肠癌
皮脂腺癌
突变
林奇综合征
癌症
皮肤病科
病理
内科学
DNA错配修复
基因
癌
遗传学
生物
作者
M. Ben Rejeb,S. Mokni,M. Ben Rejeb,Nihed Abdelmoula,Baderedine Sriha,Habib Khochteli,M. Denguezli
摘要
The Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of sebaceous neoplasia and internal malignancies and caused by mutations in the mismatch repair gene. We describe the case of 58-year-old man who, over the course of several years, had multiple skin lesions and colon cancer. The syndrome was diagnosed using Sanger sequencing, which allowed us to find the causative mutation.
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