Alagille syndrome and a mutation: 41 cases of experience at a single center
PurposeAlagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a criti...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2015-10-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-58-392.pdf |