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

Abstract excerpt

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 dilatation of the biliary tract, the condition is referred as Caroli syndrome. The disease is thought to be caused...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Testing
• Share to Phenotype
• Share to Polycystic Kidney, Autosomal Recessive