Novel mutations in NOTCH2 gene in infants with neonatal cholestasis

• Main Authors: Eliana Shaul (Author), Debora Kogan-Liberman (Author), Stephanie Schuckalo (Author), Dominique Jan (Author), Michelle Ewart (Author), Trang Nguyen (Author), Mercedes Martinez (Author), Nadia Ovchinsky (Author)
• Format: Book
• Published: MDPI AG, 2019-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 in 94% of patients and mutations in the NOTCH2 rece...