Targeted exome sequencing for molecular diagnosis of pediatric Alport syndrome in Southwest China
We performed molecular diagnosis on 15 patients using targeted exome sequencing. Our findings indicate additional <i>COL4A3</i>, <i>COL4A4</i>, and <i>COL4A5</i> variants as involved in AS, having implications for genetic diagnosis, therapy, and counseling of affected families.
Authors
- Shanling Liu (ORCID: https://orcid.org/0000-0001-8788-7991)
- Jing Wang
- Cong Zhou (ORCID: https://orcid.org/0009-0006-6147-6178)
- Wei Xing (ORCID: https://orcid.org/0000-0003-2140-2685)
- Yuanyuan Xiao (ORCID: https://orcid.org/0000-0003-0908-1364)
Institutions
- Sichuan University (CN)
- West China Second University Hospital of Sichuan University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-08-29
- DOI
- https://doi.org/10.3389/fgene.2025.1580864
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00