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

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

Abstract 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 ana...

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Main Authors: Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela
Format: Article
Language:English
Published: Nature Portfolio 2023-05-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-023-00352-1

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