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: | |
---|---|
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-27007720 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.3390/jcm10173774 |