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[Genetic analysis of a Chinese pedigree affected with Cowden syndrome due to variant of PTEN gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2024

Peng Zhiwen, Zhang Canhui

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology of a Chinese pedigree affected with Cowden syndrome (CS). METHODS: A CS pedigree diagnosed in November 2022 at the Ningde Municipal Hospital Affiliated to Ningde Normal University was selected as the study subject. Clinical data were collected, and genetic testing was carried out for available members. Pathogenicity analysis was carried out for the...

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PMID: 38946366
DOI: 10.3760/cma.j.cn511374-20230516-00290

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