Novel mutations in NOTCH2 gene in infants with neonatal cholestasis

• मुख्य लेखकों: Eliana Shaul (लेखक), Debora Kogan-Liberman (लेखक), Stephanie Schuckalo (लेखक), Dominique Jan (लेखक), Michelle Ewart (लेखक), Trang Nguyen (लेखक), Mercedes Martinez (लेखक), Nadia Ovchinsky (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: MDPI AG, 2019-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...