Clinical and Genetic Characteristics of Alagille Syndrome in Adults

Jianguo Li, Haicong Wu,Shuru Chen,Jiahui Pang,Heping Wang,Xinhua Li,Weiqiang Gan

Journal of Clinical and Translational Hepatology（2022）

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摘要

The clinical manifestations highlighted by the current diagnostic criteria for most adults with AGS are atypical. Those who do not meet the criteria but are highly suspicious of having AGS need further evaluation, especially genetic testing.

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关键词

Adult,Alagille syndrome,Clinical features,JAG1,NOTCH2

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