PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
2019
Purpose:To document the rod–cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations.Methods:Retrospective cohort study of 53 patients (42 families) with biallelic MYO7A mutations who underwent comprehensive examination, including functional visual tests and m
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