Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options

PURPOSE: In the era of precision medicine, genomic characterization of blind patients is critical. Here, we evaluate the effects of comprehensive genetic analysis on the etiologic diagnosis of potentially hereditary vision loss and its impact on clinical management. METHODS: We studied 100 non‐syndr...

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Detalles Bibliográficos
Autores principales: Diñeiro, Marta, Capín, Raquel, Cifuentes, Guadalupe Á., Fernández‐Vega, Beatriz, Villota, Eva, Otero, Andrea, Santiago, Adrián, Pruneda, Patricia C., Castillo, David, Viejo‐Díaz, Mónica, Hernando, Inés, Durán, Noelia S., Álvarez, Rebeca, Lago, Claudia G., Ordóñez, Gonzalo R., Fernández‐Vega, Álvaro, Cabanillas, Rubén, Cadiñanos, Juan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754416/
https://www.ncbi.nlm.nih.gov/pubmed/32483926
http://dx.doi.org/10.1111/aos.14479

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