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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

Published on: October 11, 2024

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GJB2に関連する難聴における自然史とフェノタイプ-ゲノタイプ相関:体系的かつ包括的なレビュー

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
まとめ

最も一般的な遺伝性失聴であるGJB2に関連した難聴は,複雑な遺伝性と多様な症状を示しています. このレビューは7967人の患者を分析し,より良い遺伝子カウンセリングと臨床試験のためのゲノタイプ-フェノタイプリンクと遺伝子治療の進展を明らかにしました.

キーワード:
GJB2 GJB2とは遺伝子治療は遺伝子療法です.聴覚障害による聴覚喪失自然史は自然史である.フェノタイプゲノタイプ相関関係

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