一个遗传性出血性毛细血管扩张症家系的临床和基因诊断
Clinical and genetic diagnosis in a hereditary hemorrhagic telangiectasia family

DOI: 10.11817/j.issn.1672-7347.2017.09.004

Keywords: 遗传性出血性毛细血管扩张症,临床诊断,基因诊断,endoglin,致病性变异,
hereditary hemorrhagic telangiectasia,clinical diagnosis,genetic diagnosis,endoglin,pathogenic variant

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