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PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults
PURPOSE: Genetic variation in PDE6C is associated with achromatopsia and cone dystrophy, with only a few reports of cone–rod dystrophy in the literature. We describe two pediatric and two adult patients with PDE6C related cone and cone–rod dystrophy and the first longitudinal data of a pediatric pat...
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| Publicado no: | Invest Ophthalmol Vis Sci |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Association for Research in Vision and Ophthalmology
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7545085/ https://ncbi.nlm.nih.gov/pubmed/33001157 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.12.1 |
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