A novel frameshift variant of PAX3 in a Chinese Yugur family with Waardenburg syndrome type 1
This study expands the mutation spectrum of PAX3 and provides evidence supporting the pathogenicity of the c.788dup variant. It also confirms the long-term benefit of cochlear implantation and rehabilitation in WS1-related hearing loss.
Authors
- Dujuan Lin
- Panpan Bian (ORCID: https://orcid.org/0000-0003-4520-4106)
- Baicheng Xu (ORCID: https://orcid.org/0000-0002-9291-9369)
- Lingping Zhan
- Ya Wang (ORCID: https://orcid.org/0000-0002-3971-4997)
Institutions
- Lanzhou University Second Hospital (CN)
- Lanzhou University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-10-22
- DOI
- https://doi.org/10.3389/fgene.2025.1679351
- Citations
- 1
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.47
Funders
- Lanzhou University
- National Natural Science Foundation of China