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Article

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.

Genes - 29 Oct 2020

Al-Khuzaei Saoud, Broadgate Suzanne, Halford Stephanie, Jolly Jasleen K, Shanks Morag, Clouston Penny, Downes Susan M

Abstract excerpt

A retrospective review of the clinical records of patients seen at the Oxford Eye Hospital identified as having NR2E3 mutations was performed. The data included symptoms, best-corrected visual acuity, multimodal retinal imaging, visual fields and electrophysiology testing. Three participants were identified with biallelic NR2E3 pathogenic sequence variants detected using a targeted NGS gene panel, two of which...

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Identifiers

PMID: 33138239
DOI: 10.3390/genes11111288
PMCID: PMC7716234

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