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

• Main Authors: Yijiang Han (Author), Kun Zhu (Author), Hao Wu (Author), Baohai Chen (Author), Shuqi Hu (Author), Dengming Lai (Author), Jinfa Tou (Author)
• 格式: 圖書
• 出版: Frontiers Media S.A., 2022-10-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

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...