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...
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Main Authors: | , , , , , , , |
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Format: | Book |
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Korean Pediatric Society,
2015-10-01T00:00:00Z.
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A1234.567 |
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