Novel mutations in NOTCH2 gene in infants with neonatal cholestasis

Novel mutations in NOTCH2 gene in infants with neonatal cholestasis

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 rec...

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Bibliographic Details
Main Authors: Eliana Shaul, Debora Kogan-Liberman, Stephanie Schuckalo, Dominique Jan, Michelle Ewart, Trang Nguyen, Mercedes Martinez, Nadia Ovchinsky
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:Pediatric Reports
Subjects:
Paucity of intrahepatic bile ducts
NOTCH2
Neonatal Cholestasis
Online Access:https://www.pagepress.org/journals/index.php/pr/article/view/8206

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https://www.pagepress.org/journals/index.php/pr/article/view/8206

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