Analysis of clinical phenotypes and genotypes of congenital deafness caused by rare variants in GJB2
The GJB2 c.551G>A mutation not only leads to severe hearing loss but may also be associated with syndromic hearing loss, expanding our understanding of the clinical spectrum associated with this variant.
Authors
- Xuxu Zhao (ORCID: https://orcid.org/0000-0001-5540-4289)
- Yan Bai (ORCID: https://orcid.org/0000-0002-1090-341X)
- Houyong Kang
- Cheng Zhang (ORCID: https://orcid.org/0000-0003-0607-7140)
- Yu Lu (ORCID: https://orcid.org/0000-0003-2378-4971)
- Chen Huan (ORCID: https://orcid.org/0009-0000-0930-2775)
- Wenyu Xiong (ORCID: https://orcid.org/0009-0005-9285-8825)
Institutions
- Dalian Medical University (CN)
- Sichuan University (CN)
- West China Hospital of Sichuan University (CN)
- Second Affiliated Hospital of Chongqing Medical University (CN)
- The Affiliated Yongchuan Hospital of Chongqing Medical University (CN)
- Chongqing Medical University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-04-23
- DOI
- https://doi.org/10.3389/fped.2025.1514369
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00