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Updated: Jun 7, 2025

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在有或没有有状多症综合征的患者中,RNF43的生殖系病原体变异

Heidi Hesselø Brinch1, Anna Byrjalsen2, Zuzana Lohse3

  • 1Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.

Familial cancer
|November 15, 2024
PubMed
概括

RNF43中的致病变体与状多综合征 (SPS) 有关,但这项研究发现透率远低于预期. 许多携带RNF43变异的携带者没有出现多,使结直肠癌风险的遗传咨询复杂化.

关键词:
癌症遗传学 癌症遗传学癌症倾向综合征 癌症倾向综合征结肠直肠癌是一种癌症.多种类型的多种类型.RNF43 RNF43是什么意思状多症综合征 状多症综合征

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