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Article

Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD).

Cell and tissue research - 1 Dec 2006

Sweeney William E, Avner Ellis D

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes characterized by dual renal and hepatic involvement of variable severity. Despite the wide clinical spectrum of ARPKD (MIM 263200), genetic linkage studies indicate that mutations at a single locus, PKHD1 (polycystic kidney and hepatic disease 1), located on human chromosome region 6p21.1-p12,...

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Source

Identifiers

PMID: 16767405
DOI: 10.1007/s00441-006-0226-0

Genes

EGFR
PKHD1

Provenance

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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