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Updated: Feb 16, 2026

Author Spotlight: Optimizing EAS with Long Electrodes for Enhanced Cochlear Coverage and Hearing Preservation
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Author Spotlight: Optimizing EAS with Long Electrodes for Enhanced Cochlear Coverage and Hearing Preservation

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与GJB2相关的听力损失中的自然史和表型-基因型相关性:系统和全面的审查

Liheng Chen1, Cheng Wen2, Weitao Li1

  • 1ENT Institute and Department of Otorhinolaryngology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China; Shanghai Key Laboratory of Gene Editing and Cell Therapy for Rare Diseases, Fudan University, Shanghai 200031, China; State Key Laboratory of Brain Function and Disorders and MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200032, China; NHC Key Laboratory of Hearing Medicine, Shanghai 200031, China; Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China.

Journal of genetics and genomics = Yi chuan xue bao
|February 14, 2026
PubMed
概括

与GJB2相关的听力损失是最常见的遗传性聋,表现为复杂的遗传和多样化的症状. 这份综述分析了7967名患者,揭示了基因型-表型联系和基因治疗进展,以获得更好的遗传咨询和临床试验.

关键词:
在GJB2中,GJB2是什么?基因治疗是一种基因疗法.听力损失 听力损失自然历史自然历史.表型基因型相关性 表型基因型相关性

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