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Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration
There is a lack of studies which seek to discern disease expression in patients with mutations that alter retinal ceramide metabolism, specifically in the ceramide kinase like (CERKL) gene. This cross-sectional case series reports a novel phenotypic manifestation of CERKL-associated retinopathy. Fou...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351646/ https://www.ncbi.nlm.nih.gov/pubmed/30696906 http://dx.doi.org/10.1038/s41598-018-37578-4 |