Alagille syndrome involves a failure of proper segmentation of the paraxial mesoderm,ultimately resulting in defects of the vertebral column.Which signaling pathway is mutated in patients with Alagille?

Question

Quizplus · Accepted Answer

Alagille syndrome involves mutations in the Notch signaling pathway, specifically in the Notch ligand Jagged1. This leads to improper development of several organs, including the vertebral column.

Alagille Syndrome Involves a Failure of Proper Segmentation of the Paraxial