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[Clinical characterization and genetic analysis of two Chinese pedigrees affected with Familial adenomatous polyposis caused by variants of MUTYH gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2026

Zhang Long, Shen Yuhou, Duan Hualing, Qi Hongyang, Yue Aimin

Abstract excerpt

OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of two patients with Familial adenomatous polyposis (FAP) due to variants of MUTYH gene. METHODS: Two patients presenting with multiple colorectal polyps on gastrointestinal endoscopy at Xinxiang Central Hospital respectively in June and October 2022 were selected as study subjects. A retrospective study design was employed to collect their...

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Identifiers

PMID: 42091199
DOI: 10.3760/cma.j.cn511374-20250920-00557

Genes

MUTYH
FAP

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