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Article

A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing.

Medicine - 29 May 2020

Zhang Jun, Dai Li-Meng, Li Fu-Rong, Zhang Bo, Zhao Jing-Hong, Cheng Jin-Bo

Abstract excerpt

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is an autosomal recessive hepatorenal fibrocystic syndrome. The majority of ARPKD patients progress to end-stage renal disease. Precise molecular diagnosis of ARPKD has proven valuable for understanding its mechanism and selecting optimal therapy. METHODS: A Chinese family with ARPKD was recruited in current study. The clinical characteristics of...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32481435
DOI: 10.1097/MD.0000000000020413

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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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