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Deep Phenotyping of PDE6C-Associated Achromatopsia

PURPOSE: To perform deep phenotyping of subjects with PDE6C achromatopsia and examine disease natural history. METHODS: Eight subjects with disease-causing variants in PDE6C were assessed in detail, including clinical phenotype, best-corrected visual acuity, fundus autofluorescence, and optical cohe...

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Detalles Bibliográficos
Autores principales:	Georgiou, Michalis, Robson, Anthony G., Singh, Navjit, Pontikos, Nikolas, Kane, Thomas, Hirji, Nashila, Ripamonti, Caterina, Rotsos, Tryfon, Dubra, Alfredo, Kalitzeos, Angelos, Webster, Andrew R., Carroll, Joseph, Michaelides, Michel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Association for Research in Vision and Ophthalmology 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905659/ https://www.ncbi.nlm.nih.gov/pubmed/31826238 http://dx.doi.org/10.1167/iovs.19-27761

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