Alagille syndrome and a mutation: 41 cases of experience at a single center

• Main Authors: Kyung Jin Ahn (Author), Ja Kyoung Yoon (Author), Gi Beom Kim (Author), Bo Sang Kwon (Author), Jung Min Go (Author), Jin Su Moon (Author), Eun Jung Bae (Author), Chung Il Noh (Author)
• Format: Book
• Published: Korean Pediatric Society, 2015-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...