Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome

• Váldodahkkit: Alisa Brennan (Dahkki), Anil Kesavan (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Hindawi Limited, 2017-01-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH...