NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference22 articles.
1. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases;Alagille;J Pediatr,1987
2. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis;Emerick;Hepatology,1999
3. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1;Li;Nat Genet,1997
4. Mutations in the human Jagged1 gene are responsible for Alagille syndrome;Oda;Nat Genet,1997
5. Notch signaling and inherited disease syndromes;Gridley;Hum Mol Genet Review Issue 1,2003
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