Isolated rod dysfunction associated with a novel genotype of CNGB1
Purpose: To describe the clinical and electrophysiological features of an unusual retinopathy in a patient with a novel genotype of CNGB1, mutations in which are implicated in autosomal recessive retinitis pigmentosa (rod-cone dystrophy). Observations: A 61-year old asymptomatic woman was referred t...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2019-06-01
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| coleção: | American Journal of Ophthalmology Case Reports |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2451993618303232 |
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