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Updated: Jul 26, 2025

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不一致的染色模式和微卫星结果在MSH6病原变体载体瘤中

Anne-Sophie van der Werf-'t Lam1, Diantha Terlouw2, Carli M Tops1

  • 1Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
|June 12, 2023
PubMed
概括

通过MSH6变体诊断林奇综合征 (LS) 可能是具有挑战性的,因为测试结果相互矛盾. 这项研究强调了潜在的错误诊断,并建议进行全面的遗传测试以准确识别LS.

关键词:
林奇综合症 (Lynch Syndrome) 是一种疾病,免疫组织化学 免疫组织化学微卫星的不稳定性不匹配 维修 缺陷 缺陷

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