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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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Wiley
2022-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1002/mgg3.1998 |
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