Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina

This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed ret...

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Detalles Bibliográficos
Autores principales: Schlottmann, Patricio G., Luna, José D., Labat, Natalia, Yadarola, María Belén, Bainttein, Silvina, Esposito, Evangelina, Ibañez, Agustina, Barbaro, Evangelina Ivón, Álvarez Mendiara, Alejandro, Picotti, Carolina P., Chirino Misisian, Andrea, Andreussi, Luciana, Gras, Julieta, Capalbo, Luciana, Visotto, Mauro, Dipierri, José E., Alcoba, Emilio, Fernández Gabrielli, Laura, Ávila, Silvia, Aucar, María Emilia, Martin, Daniel M., Ormaechea, Gerardo Juan, Inga, M. Eugenia, Francone, Aníbal A., Charles, Martin, Zompa, Tamara, Pérez, Pablo Javier, Lotersztein, Vanesa, Nuova, Pedro J., Canonero, Ivana B., Mahroo, Omar A., Michaelides, Michel, Arno, Gavin, Daich Varela, Malena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10202926/
https://www.ncbi.nlm.nih.gov/pubmed/37217489
http://dx.doi.org/10.1038/s41525-023-00352-1

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