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...
| المؤلفون الرئيسيون: | , , , , , , |
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| التنسيق: | Journal article |
| اللغة: | English |
| منشور في: |
MDPI
2020
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