Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Abstract Background Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations. When congenital hepatic fibrosis is associated with the po...

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Bibliographic Details
Main Authors: Carola Giacobbe, Fabiola Di Dato, Daniela Palma, Michele Amitrano, Raffaele Iorio, Giuliana Fortunato
Format: Article
Language:English
Published: Wiley 2022-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Caroli disease
genetic screening
PKHD1 gene
uncertain significance variants
Online Access:https://doi.org/10.1002/mgg3.1998

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https://doi.org/10.1002/mgg3.1998

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