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

BACKGROUND: Infants 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 signal...

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Detalles Bibliográficos
Autores principales: Han, Yijiang, Zhu, Kun, Wu, Hao, Chen, Baohai, Hu, Shuqi, Lai, Dengming, Tou, Jinfa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631024/
https://www.ncbi.nlm.nih.gov/pubmed/36340723
http://dx.doi.org/10.3389/fped.2022.1017647

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9631024/
https://www.ncbi.nlm.nih.gov/pubmed/36340723
http://dx.doi.org/10.3389/fped.2022.1017647

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