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Updated: Jun 30, 2025

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在儿科心血管疾病下下一代测序后的诊断产量

Anne M Slavotinek1, Michelle L Thompson2, Lisa J Martin3

  • 1Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH, USA; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA.

HGG advances
|March 24, 2024
PubMed
概括

基因检测,包括全外体和全基因组测序,为儿科心血管疾病提供了有价值的诊断. 基因组测序和综合症状况测试显示,患有心脏缺陷的儿童的诊断产量更高.

关键词:
节律失常 节律失常心肌病性心脏病 - 心肌病性心脏病遗传性心脏病是一种先天性心脏病.在下一代测序后的诊断产量.心脏缺陷 心脏缺陷

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