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Article

Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.

Molecular medicine reports - 1 Dec 2019

Wang Jin, Qi Dandan, Yang Jialiang, Zhang Dingding, Wang Qingwei, Ju Xueming, Zhong Xiang

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is a hereditary fibrocystic disease that primarily involves the kidneys and hepatobiliary tract. The polycystic kidney and hepatic disease 1 (PKHD1) gene is the only gene implicated in ARPKD. The present study aimed to identify PKHD1 mutations causing ARPKD in a Chinese family. A couple that underwent prenatal genetic diagnosis for ARPKD and their families...

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Source

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Identifiers

PMID: 31638247
DOI: 10.3892/mmr.2019.10738
PMCID: PMC6854546

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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