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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Detalles Bibliográficos
Autores principales: Al-khuzaei, Saoud, Broadgate, Suzanne, Halford, Stephanie, Jolly, Jasleen K., Shanks, Morag, Clouston, Penny, Downes, Susan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716234/
https://www.ncbi.nlm.nih.gov/pubmed/33138239
http://dx.doi.org/10.3390/genes11111288

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7716234/
https://www.ncbi.nlm.nih.gov/pubmed/33138239
http://dx.doi.org/10.3390/genes11111288

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