Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

doi:10.1002/ajmg.a.37352

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Article

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

American journal of medical genetics. Part A - 1 Dec 2015

Courcet Jean-Benoît, Minello Anne, Prieur Fabienne, Morisse Laurent, Phelip Jean-Marc, Beurdeley Alain, Meynard Daniel, Massenet Denis, Lacassin Flore, Duffourd Yannis, Gigot Nadège, St-Onge Judith, Hillon Patrick, Vanlemmens Claire, Mousson Christiane, Cerceuil Jean-Pierre, Guiu Boris, Thevenon Julien, Thauvin-Robinet Christel, Jacquemin Emmanuel, Rivière Jean-Baptiste, Michel-Calemard Laurence, Faivre Laurence

Abstract excerpt

Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability. Rare familial cases of CD had been reported and exceptional cases of CD are associated...

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PMID: 26385851
DOI: 10.1002/ajmg.a.37352

Genes

PKHD1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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