Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients

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作者
Hang Yang
Yanyun Ma
Mingyao Luo
Guoyan Zhu
Yinhui Zhang
Binbin Li
Chang Shu
Zhou Zhou
机构
[1] Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center
[2] Chinese Academy of Medical Sciences and Peking Union Medical College,State Key Laboratory of Cardiovascular Disease, Center of Vascular Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases
来源
Orphanet Journal of Rare Diseases | / 15卷
关键词
Loeys-Dietz syndrome; Genetic testing; Phenotypic spectrum;
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