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Article

Genetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation.

Digestive diseases and sciences - 1 Oct 2026

Bhuva Meha, Thompson Edward, Watson Christopher M, Sava Florentina, Griffiths William J H

Abstract excerpt

BACKGROUND: Polycystic liver disease and other manifestations of ductal plate malformation (DPM) may be incidental or indeed develop significant complications. The genetic basis of 'isolated' DPM differs from that associated with polycystic kidney disease and remains incompletely understood. AIMS: We sought to genetically characterize a sizeable single-center cohort of patients with 'isolated' DPM, defined as...

Read the complete abstract on PubMed

Topics

Humans
Female
Phenotype
Liver Diseases
Male
Retrospective Studies
Middle Aged

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Cysts

Glucosidases

Caroli Disease

Liver Cirrhosis

Hamartoma

Mutation

Bile Ducts, Intrahepatic

Genetic Predisposition to Disease

Aged

Calcium-Binding Proteins

Source

Identifiers

PMID: 42365546
DOI: 10.1007/s10620-026-10072-y

Genes

PRKCSH
GANAB
PKHD1
SEC63
ALG8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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