- Case Report
Novel Mutations in NOTCH2 Gene in Infants with Neonatal Cholestasis
- Eliana Shaul,
- Debora Kogan-Liberman,
- Stephanie Schuckalo,
- Dominique Jan,
- Michelle Ewart,
- Trang Nguyen,
- Mercedes Martinez and
- Nadia Ovchinsky
One cause of neonatal cholestasis (NC) is paucity of intrahepatic bile ducts which can be associated with Alagille syndrome or non- syndromic. Alagille syndrome is caused by autosomal dominant mutations in the Notch signaling pathway ligand Jagged1 i...

