Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families
The study demonstrated a multi-faceted approach to improve the diagnostic accuracy and clinical utility of genetic testing for Alport syndrome.
Authors
- Yaochun Zhang (ORCID: https://orcid.org/0000-0003-3220-3788)
- Jason Chon Jun Choo (ORCID: https://orcid.org/0000-0002-8477-0875)
- Alwin Hwai Liang Loh (ORCID: https://orcid.org/0000-0003-3852-040X)
- Yat Hon Ng (ORCID: https://orcid.org/0000-0001-7400-6948)
- Kar Hui Ng (ORCID: https://orcid.org/0000-0002-6919-8575)
- Patrick Lau (ORCID: https://orcid.org/0000-0002-9693-390X)
- Jun Li Ng
- Hui‐Kim Yap (ORCID: https://orcid.org/0000-0001-6008-382X)
- Cynthia Ciwei Lim (ORCID: https://orcid.org/0000-0003-0021-4861)
- Hui‐Lin Chin (ORCID: https://orcid.org/0000-0001-7431-6794)
- Mya Than
- Jia Liang Kwek (ORCID: https://orcid.org/0000-0001-8161-1679)
- Tina Si Ting Lim
- Kay Yuan Chong
- Chee Teck Koh
- Irene Yanjia Mok
Institutions
- National University of Singapore (SG)
- Singapore General Hospital (SG)
- National University Health System (SG)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-09-29
- DOI
- https://doi.org/10.3389/fmed.2025.1611334
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Research Foundation
- National Research Foundation Singapore
- Medical Research Council
- National Medical Research Council