PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
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DOI: 10.1097/iae.0000000000002636
Abstract: 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,… read more here.
Keywords: cohort; rod cone; myo7a mutations; cone dystrophy ... See more keywords