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Article

Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease.

International journal of molecular sciences - 17 Jun 2021

Cordido Adrian, Vizoso-Gonzalez Marta, Garcia-Gonzalez Miguel A

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. PKHD1 is the gene that is responsible for the vast majority of ARPKD. However, some cases have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a...

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Identifiers

PMID: 34204582
DOI: 10.3390/ijms22126523
PMCID: PMC8235086

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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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