Alagille syndrome due to a novel JAG1 mutation in a Chinese pediatric patient: A case report
In the present study, a novel pathogenic JAG1 mutation was identified using whole-exome sequencing in a Chinese patient with ALGS phenotype, expanding the mutational spectrum of JAG1 gene.
Authors
- Zhiyi Zhang (ORCID: https://orcid.org/0009-0005-5657-4788)
- Chuangfeng He (ORCID: https://orcid.org/0009-0008-3470-4731)
- Xue-Zu Zhang
Institutions
- Yunnan Center for Disease Control And Prevention (CN)
- Children's Hospital of Chongqing Medical University (CN)
- Third People's Hospital of Yunnan Province (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Medicine
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1097/md.0000000000044908
- Primary Topic
- Pediatric Hepatobiliary Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00