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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Association for Research in Vision and Ophthalmology
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7545085/ https://www.ncbi.nlm.nih.gov/pubmed/33001157 http://dx.doi.org/10.1167/iovs.61.12.1 |