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[Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease at childhood, teenage and advanced age].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2019

Wu Qinghua, Wang Can, Yang Saisai, Shi Huirong, Ma Xiyang, Kong Xiangdong, Ren Shumin, Jiao Zhihui, Zhai Yiwen

Abstract excerpt

OBJECTIVE: The phenotype and genetics of three patients with autosomal recessive polycystic kidney disease (ARPKD) at childhood, teenage and advanced age were analyzed. METHODS: Next generation sequencing (NGS) was applied to all the probands. PCR and Sanger sequencing were used to verify the suspicious gene variants screened by NGS in the probands and their family members, and one of the family got prenatal...

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Identifiers

PMID: 31813136
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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