Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry

[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 Diseases Patient Registry.

Detalles Bibliográficos
Autores: López de la Rosa, Alberto, Tellería, Juan José, Paz, Manuel Posada de la, Hermosilla-Gimeno, Isabel M., Agurtzane Rivas, Miren, Gilabert, Raúl, Coco, Rosa M.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/380114
Acceso en línea:http://hdl.handle.net/10261/380114
Access Level:acceso abierto
Palabra clave:Clinical
Genetic
Rare diseases
Eye
Ocular
Registry
Spain
Descripción
Sumario:[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 Diseases Patient Registry.

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