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Article

Abernethy malformation associated with Caroli's syndrome in a patient with a PKHD1 mutation: a case report.

Diagnostic pathology - 16 Aug 2017

Mi Xiao-Xiao, Li Xiao-Guang, Wang Zi-Rong, Lin Ling, Xu Chun-Hai, Shi Jun-Ping

Abstract excerpt

BACKGROUND: Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli's disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli's disease combined with congenital hepatic fibrosis and/or renal cystic disease is...

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Identifiers

PMID: 28814334
DOI: 10.1186/s13000-017-0647-y
PMCID: PMC5559867

Genes

PKHD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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