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[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease].

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

Tang Zhihua, Zheng Chunlan, Wang Wenwen, He Zhengxia, Zhang Chanli, Wang Yan, Ma Qian, Guo Hongjun

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic etiology for a Chinese pedigree affected with Autosomal dominant polycystic kidney disease (ADPKD). METHODS: A pedigree with ADPKD diagnosed at the Department of Gynaecology of the First Affiliated Hospital of Zhengzhou University in December 2020 was selected as the study subject. Clinical data of the pedigree was collected, and whole exome sequencing...

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PMID: 39217485
DOI: 10.3760/cma.j.cn511374-20230523-00311

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