Current Status Of Clinical And Genetic Screening Of Hereditary Hemorrhagic Telangiectasia Families In Hungary
JOURNAL OF CLINICAL MEDICINE（2021）
摘要
Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [...].
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关键词
hereditary hemorrhagic telangiectasia, ENG, ACVRL1, SMAD4, germline mutation, genetic test, Curacao criteria, family screening
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