R. Sánchez-Martínez

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

M. L. Pérez, J. Salazar-Mendiguchía, A. Riera-Mestre, 2020, Orphanet Journal of Rare Diseases.

Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome

C. Lázaro, T. Ramón Y Cajal, A. Castillejo, 2024, Orphanet journal of rare diseases.