Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy

Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age population. We performed a retrospective epidemiological study to determine the genetic basis of IRDs in a large Italian cohort (n = 2790) followed at a single referral center. We provided, mainly by next gener...

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Detalles Bibliográficos
Autores principales: Karali, Marianthi, Testa, Francesco, Di Iorio, Valentina, Torella, Annalaura, Zeuli, Roberta, Scarpato, Margherita, Romano, Francesca, Onore, Maria Elena, Pizzo, Mariateresa, Melillo, Paolo, Brunetti-Pierri, Raffaella, Passerini, Ilaria, Pelo, Elisabetta, Cremers, Frans P. M., Esposito, Gabriella, Nigro, Vincenzo, Simonelli, Francesca, Banfi, Sandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9718770/
https://www.ncbi.nlm.nih.gov/pubmed/36460718
http://dx.doi.org/10.1038/s41598-022-24636-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9718770/
https://www.ncbi.nlm.nih.gov/pubmed/36460718
http://dx.doi.org/10.1038/s41598-022-24636-1

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