1. The portal for rare diseases and orphan drugs. Available online: https://www.orpha.net/consor/cgi-bin/index.php (Accessed on Jul 22, 2021).
2. Second International guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia;Faughnan;Ann Intern Med,2020
3. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome);Shovlin;Am J Med Genet,2000
4. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era;McDonald;Front Genet,2015
5. Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry;Sánchez-Martínez;Orpahnet J Rare Dis,2020