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Updated: Jul 11, 2025

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在儿科心肌病中对外体序列的诊断收益率

Julia Keisling1, Emma Bedoukian2, Danielle S Burstein3

  • 1Rugters, The State University of New Jersey, New Brunswick, NJ.

The Journal of pediatrics
|November 3, 2023
PubMed
概括

外体序列 (ES) 为儿科心肌病提供了高的诊断产量,识别了基因组错过的遗传原因. 这种基因测试方法对于心脏病儿童的准确诊断至关重要.

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Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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