“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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eye (Lond)
Prif Awduron: Cundy, Olivia, Broadgate, Suzanne, Halford, Stephanie, MacLaren, Robert E., Shanks, Morag E., Clouston, Penny, Gilhooley, Michael J., Downes, Susan M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2020
Pynciau:
Article
Mynediad Ar-lein: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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