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Updated: Jul 7, 2025

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在MYO7A中鉴定了一种新型化合物异构性致病变体,导致中国患者的阿舍尔综合征IB型:一个病例报告

Ya'nan Zhang1, Xinyi Guo1, Ling Hao2

  • 1College of Traditional Chinese Medicine, Changchun University of Traditional Chinese Medicine, Changchun, China.

The Journal of international medical research
|December 23, 2023
PubMed
概括

这项研究详细介绍了一名患有阿舍尔综合征型IB的青少年男孩,这种疾病的特征是严重的听力损失,视力损失和前置系统问题. 基因分析在MYO7A基因中发现了新的化合物异构性致病变体.

关键词:
这就是MYO7A.阿舍尔综合征是什么意思阿舍尔综合征是什么意思基因检测 基因检测是指基因检测.遗传性耳聋是一种遗传性耳聋.病原性变异是一种病原性变异.整体外因子测序的测序

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