TY  - GEN
AU  - Lopez-de la Rosa, Alberto
AU  - Telleria, Juan J
AU  - Posada De la Paz, Manuel
AU  - Hermosilla-Gimeno, Isabel
AU  - Agurtzane Rivas, Miren
AU  - Gilabert, Raúl
AU  - Coco-Martín, Rosa M
PY  - 2024
DO  - 10.1186/s13023-024-03242-6
UR  - http://hdl.handle.net/20.500.12105/20545
AB  - 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 Spanish Rare...
LA  - eng
PB  - BioMed Central (BMC)
KW  - Clinical
KW  - Genetic
KW  - Rare diseases
KW  - Eye
KW  - Ocular
KW  - Registry
KW  - Spain
KW  - Eye Diseases
KW  - Registries
KW  - Rare Diseases
KW  - Humans
KW  - Male
KW  - Female
KW  - Spain
KW  - Adult
KW  - Middle Aged
KW  - Adolescent
KW  - Child
KW  - Young Adult
KW  - Child, Preschool
KW  - Aged
KW  - Infant
KW  - Visual Acuity
KW  - Retinal Dystrophies
TI  - Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
TY  - research article
ER  -