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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Detalhes bibliográficos
Publicado no:Acta Ophthalmol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7754416/
https://ncbi.nlm.nih.gov/pubmed/32483926
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/aos.14479
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