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

BACKGROUND AND OBJECTIVES: 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. SUBJECTS AND METHODS: This retrospective case series at a tertiary re...

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Published in:Eye (Lond)
Main Authors: Cundy, Olivia, Broadgate, Suzanne, Halford, Stephanie, MacLaren, Robert E., Shanks, Morag E., Clouston, Penny, Gilhooley, Michael J., Downes, Susan M.
Format: Artigo
Language:Inglês
Published: Nature Publishing Group UK 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8182807/
https://ncbi.nlm.nih.gov/pubmed/32728228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-020-1105-8
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