Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss
The combination of a neonatal hearing screening and WES can diagnose syndrome-type hearing loss in infancy and childhood, according to our findings, expansion of the gene variant spectrum and phenotype for various age groups of SHL is essential and can provide valuable guidelines for clinical intervention decisions. It is imperative for medical practitioners to conduct diligent and prolonged patient monitoring due to the inherent variability in both the auditory impairment and the comprehensive clinical manifestation of SHL.
Authors
- Yinghui Zhang (ORCID: https://orcid.org/0009-0004-1626-1640)
- M. Q. Wang (ORCID: https://orcid.org/0009-0009-1626-8021)
- Changshui Chen (ORCID: https://orcid.org/0000-0001-5943-9577)
- Zhoushu Zheng (ORCID: https://orcid.org/0000-0001-9868-1104)
- Lulu Yan (ORCID: https://orcid.org/0000-0002-3402-7637)
- Lu Ding (ORCID: https://orcid.org/0009-0009-3631-2739)
- Junhua Wu (ORCID: https://orcid.org/0000-0002-1088-2604)
- Haibo Li (ORCID: https://orcid.org/0000-0002-9309-6632)
- Ming Tang (ORCID: https://orcid.org/0000-0001-9859-6743)
- Yihui Yang (ORCID: https://orcid.org/0009-0001-5539-0590)
Institutions
- Ningbo University (CN)
Publication Details
- Journal
- The Application of Clinical Genetics
- Published
- 2024-11-01
- DOI
- https://doi.org/10.2147/tacg.s472898
- Citations
- 1
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 0.34