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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2020
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| Materias: | |
| 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 |