Caricamento...
Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants
PURPOSE: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. OBSERVATIONS: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and gen...
Salvato in:
| Pubblicato in: | Am J Ophthalmol Case Rep |
|---|---|
| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2020
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7315105/ https://ncbi.nlm.nih.gov/pubmed/32613137 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2020.100780 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|