Alagille Syndrome: A Comprehensive Review of Clinical Heterogeneity, Genetic Mechanisms, and Evolving Therapeutic Strategies
This comprehensive review examines Alagille Syndrome, a rare autosomal dominant disorder caused by JAG1 or NOTCH2 mutations, by detailing its highly variable multisystem clinical manifestations, underlying Notch pathway pathogenesis, and evolving management strategies ranging from multidisciplinary care to emerging targeted therapies.