Article
Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials.
Acta ophthalmologica - 1 Dec 2021
Galbis-Martínez Lilián, Blanco-Kelly Fiona, García-García Gema, Ávila-Fernández Almudena, Jaijo Teresa, Fuster-García Carla, Perea-Romero Irene, Zurita-Muñoz Olga, Jimenez-Rolando Belén, Carreño Ester, García-Sandoval Blanca, Millán José M, Ayuso Carmen
Abstract excerpt
PURPOSE: We aimed to establish correlations between the clinical features of a cohort of Usher syndrome (USH) patients with pathogenic variants in MYO7A, type of pathogenic variant, and location on the protein domain. METHODS: Sixty-two USH patients from 46 families with biallelic variants in MYO7A were examined for visual and audiological features. Participants were evaluated based on self-reported...
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