Article
Clinical and molecular genetics of Alagille syndrome.
Current opinion in pediatrics - 1 Dec 1999
Krantz I D, Piccoli D A, Spinner N B
Abstract excerpt
Alagille syndrome (AGS) is a dominantly inherited disorder characterized by bile duct paucity and resultant liver disease in combination with cardiac, skeletal, ocular, and facial abnormalities. Jagged1 (JAG1) has been identified as the AGS disease gene. It encodes a ligand in the Notch signaling pathway that is involved in cell fate determination. AGS is the first developmental disorder to be associated with...
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