A sensorineural hearing loss harboring novel compound heterozygous variant in the TRIOBP gene: A case report
TRIOBP isoforms are predominantly expressed in the inner ear, contributing to the formation of stereocilia rootlets. Further investigations are required to fully understand the phenotypic variability and establish the pathogenicity of the identified variant in relation to the <i>TRIOBP</i> gene and SNHL.
Authors
- Joonhong Park (ORCID: https://orcid.org/0000-0001-7354-4234)
- Jung Woo Rhim
- Ji Yoon Han (ORCID: https://orcid.org/0000-0002-4174-5266)
- Dong-Kee Kim
Institutions
- Jeonbuk National University Hospital (KR)
- Jeonbuk National University (KR)
- Catholic University of Korea (KR)
Publication Details
- Journal
- Heliyon
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1016/j.heliyon.2024.e36717
- Citations
- 2
- Primary Topic
- Hearing, Cochlea, Tinnitus, Genetics
- Type
- article
- Field-Weighted Citation Impact
- 0.72
Funders
- Jeonbuk National University