TY  - JOUR 
AU  - López de la Rosa, Alberto
AU  - Tellería Orriols, Juan José
AU  - Posada de la Paz, Manuel
AU  - Hermosilla-Gimeno, Isabel M.
AU  - Rivas, Miren Agurtzane
AU  - Gilabert, Raul
AU  - Coco Martín, Rosa María
PY  - 2024
SN  - 1750-1172
UR  - https://uvadoc.uva.es/handle/10324/68994
AB  - ABSTRACT: BACKGROUND: The low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the clinical and genetic characteristics of patients with rare eye diseases (RED) enrolled in the...
LA  - eng
PB  - Springer Nature
KW  - Clinical, Genetic, Rare diseases, Eye, Ocular, Registry, Spain
TI  - Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
DO  - 10.1186/s13023-024-03242-6
ER  -