Novel mutations in NOTCH2 gene in infants with neonatal cholestasis

• Prif Awduron: Eliana Shaul (Awdur), Debora Kogan-Liberman (Awdur), Stephanie Schuckalo (Awdur), Dominique Jan (Awdur), Michelle Ewart (Awdur), Trang Nguyen (Awdur), Mercedes Martinez (Awdur), Nadia Ovchinsky (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: MDPI AG, 2019-09-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: 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...