Home > Search Results: Patier, José Luis
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8 p, 724.4 KB Current HHT genetic overview in Spain and its phenotypic correlation : data from RiHHTa registry / Sánchez-Martínez, Rosario (Sociedad Española de Medicina Interna) ; Iriarte, Adriana (Institut d'Investigació Biomèdica de Bellvitge) ; Mora-Luján, José María (Institut d'Investigació Biomèdica de Bellvitge) ; Patier, José Luis (Instituto Ramón y Cajal de Investigación Sanitaria (Madrid)) ; López-Wolf, Daniel (Hospital Universitario Fundación Alcorcón) ; Ojeda García, Ana (Hospital Universitario Insular de Gran Canaria) ; Torralba, Miguel Angel (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ; Juyol, María Coloma (Hospital Universitario Miguel Servet (Saragossa)) ; Gil, Ricardo (Hospital Universitari i Politècnic La Fe (València)) ; Añón, Sol (Hospital Arnau de Vilanova (València)) ; Salazar-Mendiguchía, Joel (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Riera Mestre, Antoni (Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut)
Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases submitted to molecular diagnosis. [...]
2020 - 10.1186/s13023-020-01422-8
Orphanet Journal of Rare Diseases, Vol. 15 (June 2020) , art. 138  
Detailed record - Creative Commons

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