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Article

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

Eye (London, England) - 1 May 2021

Cundy Olivia, Broadgate Suzanne, Halford Stephanie, MacLaren Robert E, Shanks Morag E, Clouston Penny, Gilhooley Michael J, Downes Susan M

Abstract excerpt

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 referral centre for inherited retinal diseases describes patients with an IRD and at least two variants in the EYS...

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Identifiers

PMID: 32728228
DOI: 10.1038/s41433-020-1105-8
PMCID: PMC8182807

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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