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与TBX1变异相关的家族性缩性心肌病变

Jie Zhang1, Yafei Deng1, Yaxin Huang1

  • 1Department of Medical Genetics, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, PR China.

European journal of medical genetics
|October 23, 2025
PubMed
概括

在一个中国家庭中,T-box转录因子1 (TBX1) 基因的新奇突变被确定为导致高伤心肌病 (HCM) 的原因. 这一发现确立了TBX1和HCM之间的新遗传联系.

关键词:
遗传诊断是一种基因诊断.过度缩性心肌病变性是一种心肌病变性.T-box转录因子1的转录因子1整体外基因组测序的测序

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