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在中国的GNAO1脑病变的儿童的表型

Yanmei Li1,2, Hong Chen2,3, Lin Li3

  • 1Shenzhen Children's Hospital, Shantou University, Shenzhen, China.

Frontiers in pediatrics
|September 14, 2023
PubMed
概括

在儿童中,GNAO1基因变异会导致中度至严重的发育迟缓,和运动障碍. 功能丧失突变与严重脑病变有关,而 dystonia 管理是生存的关键.

关键词:
一个GNAO1一个GNAO1脑病变 - 脑病变是一种脑病变.是一种.基因 基因 基因 基因运动障碍 运动障碍状态 消极性病

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