About this document
Alagille Syndrome Overview and Features by Alabi Victor Olukayode is a document available to read on EtoBox.
Alagille syndrome is a genetic disorder characterized by bile duct paucity in the liver and other organ system involvement. It is caused by mutations in the JAG1 or NOTCH2 genes involved in cell signaling pathways. Clinical features include jaundice, pruritus, cardiac defects, characteristic facial features, vertebral anomalies, and eye abnormalities. Diagnosis involves liver biopsy showing bile duct paucity and meeting criteria of liver and other organ system involvement. Treatment requires a multidiscipli
- Author
- Alabi Victor Olukayode
- Language
- EN