匈牙利遗传性出血性毛细血管扩张症家族的临床与基因筛查现状
Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.
作者信息
Major Tamás, Bereczky Zsuzsanna, Gindele Réka, Balogh Gábor, Rácz Benedek, Bora László, Kézsmárki Zsolt, Brúgós Boglárka, Pfliegler György
机构信息
Division of Otorhinolaryngology and Head & Neck Surgery, Kenézy Gyula Campus, University of Debrecen Medical Center, University of Debrecen, H-4031 Debrecen, Hungary.
Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, H-4032 Debrecen, Hungary.
出版信息
J Clin Med. 2021 Aug 24;10(17):3774. doi: 10.3390/jcm10173774.
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [...].
摘要
遗传性出血性毛细血管扩张症（HHT）是一种罕见的种系血管畸形综合征，患病率为1:5000至1:10000 [...]。
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