Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis

Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis

BackgroundInfants with Alagille syndrome (ALGS) need to be promptly differentiated from biliary atresia (BA) at an early stage. ALGS is an autosomal, dominant, multisystem disorder with variable phenotypic penetrance caused by heterozygous mutations in JAG1 or NOTCH2, which encode the Notch signalin...

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Bibliographic Details
Main Authors: Yijiang Han, Kun Zhu, Hao Wu, Baohai Chen, Shuqi Hu, Dengming Lai, Jinfa Tou
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Pediatrics
Subjects:
infant
cholestasis
diagnosis
biliary atresia
MMP-7
alagille syndrome
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1017647/full

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https://www.frontiersin.org/articles/10.3389/fped.2022.1017647/full

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