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.

Detalhes 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 documento: artigo
Estado:Versão publicada
Data de publicação:2024
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositório:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/380114
Acesso em linha:http://hdl.handle.net/10261/380114
Access Level:Acceso aberto
Palavra-chave:Clinical
Genetic
Rare diseases
Eye
Ocular
Registry
Spain
Descrição
Resumo:[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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