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Article

Predominant Liver Cystic Disease in a New Heterozygotic PKHD1 Variant: A Case Report.

The American journal of case reports - 24 Jan 2023

Van Buren Jacob D, Neuman Jeremy T, Sidlow Richard

Abstract excerpt

BACKGROUND The polycystic kidney and hepatic disease 1 (PKHD1) gene codes for fibrocystin-polyductin, a protein that takes part in cell-signaling for cell differentiation, especially in kidney tubules and bile ducts. A homozygous or compound heterozygous defect in this gene can cause autosomal recessive polycystic kidney disease (ARPKD). Polycystic liver disease (PCLD) can also be caused by single heterozygous...

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Identifiers

PMID: 36691356
DOI: 10.12659/AJCR.938507
PMCID: PMC9883601

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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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