Novel GJB2 mutation c.188delT compound with c.235delC causing non-syndromic hearing loss in a Chinese family: A case report
This case study enriches our understanding of GJB2 mutations and underscores the critical role of genetic testing in diagnosing congenital sensorineural hearing loss. It emphasizes the necessity for early intervention and sustained interdisciplinary care to enhance the quality of life for patients with genetic hearing impairment.
Authors
- Dong Kwan Han (ORCID: https://orcid.org/0009-0001-2518-9183)
- Xiaoze Li (ORCID: https://orcid.org/0000-0003-3919-0844)
- Yilun Tao (ORCID: https://orcid.org/0000-0002-8787-9622)
- Wenxia Song
- Lihong Wang (ORCID: https://orcid.org/0000-0001-7187-5910)
- Haiwei Wang (ORCID: https://orcid.org/0000-0002-9675-4039)
- Zhipeng Hu (ORCID: https://orcid.org/0000-0003-2515-237X)
Institutions
- Changzhi Medical College (CN)
Publication Details
- Journal
- Medicine
- Published
- 2024-08-16
- DOI
- https://doi.org/10.1097/md.0000000000039266
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.00