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

Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000–1:10,000 [.]

Verfasser: Tamás Major
Zsuzsanna Bereczky
Réka Gindele
Gábor Balogh
Benedek Rácz
László Bora
Zsolt Kézsmárki
Boglárka Brúgós
György Pfliegler
Dokumenttyp: Text
Erscheinungsdatum: 2021
Verlag/Hrsg.: Multidisciplinary Digital Publishing Institute
Schlagwörter: hereditary hemorrhagic telangiectasia / ENG / ACVRL1 / SMAD4 / germline mutation / genetic test / Curaçao criteria / family screening
Sprache: Englisch
Permalink: https://search.fid-benelux.de/Record/base-28974528
Datenquelle: BASE; Originalkatalog
Powered By: BASE
Link(s) : https://doi.org/10.3390/jcm10173774