Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients
Author:
Affiliation:
1. The Center for Pediatric Liver Diseases Children's Hospital of Fudan University Shanghai China
2. Department of Pediatrics, Jinshan Hospital Fudan University Shanghai China
3. Shanghai Key Laboratory of Birth Defect Shanghai China
Funder
National Key Research and Development Program of China
National Natural Science Foundation of China
Publisher
Wiley
Subject
Hepatology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/liv.15292
Reference35 articles.
1. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
2. NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway
3. Alagille Syndrome: An Overview
4. Alagille syndrome and the liver: current insights;Prasad SS;Euroasian J Hepatogastroenterol,2018
5. Alagille Syndrome
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1. The Notch Signaling Pathway: Mechanistic Insights in Health and Disease;Engineering;2023-12
2. Alagille syndrome: an orphan disease in Colombia and summary of recent advances in treatment and survival – a case report;Annals of Medicine & Surgery;2023-04
3. Ileal Bile Acid Transporter Blockers for Cholestatic Liver Disease in Pediatric Patients with Alagille Syndrome: A Systematic Review and Meta-Analysis;Journal of Clinical Medicine;2022-12-19
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