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Original Article

Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center

Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Jung Min Go, Jin Su Moon, Eun Jung Bae, Chung Il Noh

Clin Exp Pediatr. 2015;58(10):392-397. Published online October 21, 2015

Crossref 11

Purpose

Alagille 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 critical factor for determining the prognosis.

Methods

We conducted a retrospective study of 41 patients with Alagille syndrome...

DOI: https://doi.org/10.3345/kjp.2015.58.10.392

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