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Article

Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.

Advances in kidney disease and health - 1 Sept 2023

Yang Hana, Sieben Cynthia J, Schauer Rachel S, Harris Peter C

Abstract excerpt

Polycystic kidney diseases are a group of monogenically inherited disorders characterized by cyst development in the kidney with defects in primary cilia function central to pathogenesis. Autosomal dominant polycystic kidney disease (ADPKD) has progressive cystogenesis and accounts for 5-10% of kidney failure (KF) patients. There are two major ADPKD genes, PKD1 and PKD2, and seven minor loci. PKD1 accounts for...

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Source

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Identifiers

PMID: 38097330
DOI: 10.1053/j.akdh.2023.04.004
PMCID: PMC10746289

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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