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

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 id...

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Dades bibliogràfiques
Publicat a:Genes (Basel)
Autors principals: Al-khuzaei, Saoud, Broadgate, Suzanne, Halford, Stephanie, Jolly, Jasleen K., Shanks, Morag, Clouston, Penny, Downes, Susan M.
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7716234/
https://ncbi.nlm.nih.gov/pubmed/33138239
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11111288
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