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[Clinical characteristics and genetic analysis of a child with autosomal recessive polycystic kidney disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2022

Gao Shanshan, Li Qianqian, Dai Peng, Zhao Ganye, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and molecular pathogenesis of a child with autosomal dominant polycystic kidney disease (ARPKD). METHODS: Prenatal ultrasound, clinical feature and family history of the child were analyzed. Whole exome sequencing was carried out for the child. Candidate variants were verified by Sanger sequencing. RESULTS: The child has featured premature birth with very low...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 36184092
DOI: 10.3760/cma.j.cn511374-20211022-00840

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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