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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2019-09-01
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| Series: | Pediatric Reports |
| Subjects: | |
| Online Access: | https://www.pagepress.org/journals/index.php/pr/article/view/8206 |