"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"

<p><strong>Background and objectives:</strong> The EYS gene is an important cause of autosomal recessive retinitis pigmentosa (arRP). The objective of this study is to report on novel pathogenic variants in EYS and the range of associated phenotypes.</p> <p><strong&...

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Bibliographic Details
Main Authors: Cundy, O, Broadgate, S, Halford, S, MacLaren, RE, Shanks, ME, Clouston, P, Gilhooley, MJ, Downes, SM
Format: Journal article
Language:English
Published: Nature Research 2020