Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China,Molecular Genetics & Genomic Medicine

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Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-09-08 , DOI: 10.1002/mgg3.1800
Jinjie Li ₁ , Liu Yang ₁ , Yanjun Diao ₁ , Lei Zhou ₁ , Yijuan Xin ₁ , Liqing Jiang ₂ , Rui Li ₁ , Juan Wang ₁ , Weixun Duan ₂ , Jiayun Liu ₁

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Thoracic aortic aneurysm and dissection (TAAD) is a life-threatening pathology that remains a challenge worldwide. Up to 40% of TAAD cases are hereditary with complex heterogeneous genetic backgrounds. The purposes of this study were to determine the diagnostic rate of patients with TAAD, investigate the molecular pathologic spectrum of TAAD by next-generation sequencing (NGS), and explore the future preclinical prospects of genetic diagnosis in patients at high -risk of study.

更新日期：2021-11-10

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