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Article

Alagille syndrome. The widening spectrum of arteriohepatic dysplasia.

Clinics in liver disease - 1 Nov 2000

Crosnier C, Lykavieris P, Meunier-Rotival M, Hadchouel M

Abstract excerpt

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...

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Identifiers

PMID: 11232356
DOI: 10.1016/s1089-3261(05)70140-9

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