Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary

JOURNAL OF CLINICAL MEDICINE（2021）

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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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hereditary hemorrhagic telangiectasia,ENG,ACVRL1,SMAD4,germline mutation,genetic test,Curacao criteria,family screening

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