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Updated: Jul 17, 2025

Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis
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在COL1A1中发生的一种新型突变,导致骨质生成不完美/听力损失

Ti-Ti Pan1, Lin Han1, Hong-Wei Zheng1

  • 1Peking University People's Hospital, Department of Otorhinolaryngology, Head and Neck Surgery, Beijing, China.

Brazilian journal of otorhinolaryngology
|September 7, 2023
PubMed
概括

基因分析在患有骨质生殖不完美 (OI) 和听力损失的患者中发现了COL1A1基因突变. 阶段性手术在改善OI患者的听力方面表现出有效性.

关键词:
听力损失 听力损失骨质发生不完美症 (osteogenesis imperfecta) 是一个不完美的疾病.施泰普斯手术是指一个手术.

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