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

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 polycystic...

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Detalles Bibliográficos
Autores principales: Giacobbe, Carola, Di Dato, Fabiola, Palma, Daniela, Amitrano, Michele, Iorio, Raffaele, Fortunato, Giuliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356553/
https://www.ncbi.nlm.nih.gov/pubmed/35715958
http://dx.doi.org/10.1002/mgg3.1998

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356553/
https://www.ncbi.nlm.nih.gov/pubmed/35715958
http://dx.doi.org/10.1002/mgg3.1998

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