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 dilatation of the biliary tract, the condition is referred as Caroli syndrome. The disease is thought to be caused by pathogenic variants in the PKHD1 gene (OMIM *606702).
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports / Giacobbe, Carola; DI DATO, Fabiola; Palma, Daniela; Amitrano, Michele; Iorio, Raffaele; Fortunato, Giuliana. - In: MOLECULAR GENETICS & GENOMIC MEDICINE. - ISSN 2324-9269. - (2022), p. e1998. [10.1002/mgg3.1998]
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports
Carola Giacobbe;Fabiola Di Dato;Raffaele Iorio;Giuliana Fortunato
2022
Abstract
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 dilatation of the biliary tract, the condition is referred as Caroli syndrome. The disease is thought to be caused by pathogenic variants in the PKHD1 gene (OMIM *606702).I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
