Congenital polycystic dilatation of intrahepatic bile ducts is called Caroli syndrome. This disorder may be caused by PKHD1 mutations (autosomal dominant) but isolated forms have been described not yet etiologically characterized.
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OMIM.ORG article Omim 600643 |
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Orphanet article Orphanet ID 53035 |
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Wikipedia article Wikipedia EN (Caroli_disease) |