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  • Title: Alagille syndrome: an overview.
    Author: Vajro P, Ferrante L, Paolella G.
    Journal: Clin Res Hepatol Gastroenterol; 2012 Jun; 36(3):275-7. PubMed ID: 22521120.
    Abstract:
    Alagille syndrome is an embryofoetopathy, due to mutations in the gene JAG1. It is autosomic dominant with variable expressivity, or sporadic. Neonatal cholestasis is a main feature, due to the paucity of intrahepatic bile ducts. It can rarely develop into cirrhosis, but be responsible for a disabling pruritus and xanthomas. The other features are a peculiar facies, cardiac abnormalities, butterfly vertebrae, and ocular embryotoxon. The prognosis depends on the severity of the liver and heart diseases. Hepatocarcinoma has been reported.
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