Alagille Syndrome: Diagnostic Challenges and Advances in Management

• Published in: Diagnostics (Basel) Vol. 10; no. 11; p. 907
• Main Authors: Ayoub, Mohammed D., Kamath, Binita M.
• Format: Journal Article
• Language: English
• Published: MDPI 06.11.2020; MDPI AG
• Subjects: Alagille syndrome; bile duct paucity; intestinal bile acid transporters; JAG1; NOTCH2; Review

Alagille syndrome (ALGS) is a multisystem disease characterized by cholestasis and bile duct paucity on liver biopsy in addition to variable involvement of the heart, eyes, skeleton, face, kidneys, and vasculature. The identification of JAG1 and NOTCH2 as disease-causing genes has deepened our under...