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Congenital Hepatic Fibrosis in a Purebred Spanish Horse Foal: Pathology and Genetic Studies on PKHD1 Gene Mutations.

Veterinary pathology - 1 May 2018

Molín Jéssica, Asín Javier, Vitoria Arantzazu, Sanz Arianne, Gimeno Marina, Romero Antonio, Sánchez Javier, Pinczowski Pedro, Vázquez Francisco J, Rodellar Clementina, Luján Lluís

Abstract excerpt

A 1-month-old Purebred Spanish Horse (PSH) foal presented with progressive hepatic failure culminating in death. Hepatic lesions were consistent with congenital hepatic fibrosis (CHF). Genetic studies in the PKHD1 gene in the affected foal revealed that it was heterozygous for the 2 previously described single-nucleotide polymorphisms (SNPs) linked to CHF in Swiss Franches-Montagnes (SFM) horses. In addition, 2...

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Source

Identifiers

PMID: 29402207
DOI: 10.1177/0300985817754122

Genes

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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