Alagille syndrome. The widening spectrum of arteriohepatic dysplasia.

  title={Alagille syndrome. The widening spectrum of arteriohepatic dysplasia.},
  author={C{\'e}cile Crosnier and Panayotis Lykavieris and Mich{\`e}le Meunier-Rotival and Michelle Hadchouel},
  journal={Clinics in liver disease},
  volume={4 4},
Alagille syndrome was described more than 35 years ago as a genetic entity characterized by five major features: chronic cholestasis resulting from paucity of interlobular bile ducts, peripheral pulmonary stenosis, butterflylike vertebral arch defect, posterior embryotoxon, and peculiar facies. Recently, JAGGED1 has been identified as a responsible gene by demonstration of mutations in AGS patients. Studies of the JAGGED1 expression pattern demonstrate that minor features and almost all the… CONTINUE READING