Abstract

The carrier rates of deafness-related gene mutations in South China were determined. Additionally, certain high-risk neonates developed HL and benefited from follow-up and intervention. Genetic screening can improve early diagnosis and facilitate identification of late-onset cases, resulting in timely clinical recommendations.

Keywords

Combined screeningFollow-up researchHearing lossNeonates’ hearing screeningNext-generation sequencing

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Year
2025
Type
article
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0
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Xia Gu, Runzhong Huang, Jie Xie et al. (2025). Genetic screening for hearing loss of 38,589 neonates with follow-up in South China. Human Genomics . https://doi.org/10.1186/s40246-025-00874-y

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DOI
10.1186/s40246-025-00874-y
PMID
41373027

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Data completeness: 77%