Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
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DOI: 10.1038/s41598-018-22096-0
Abstract: Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in… read more here.
Keywords: 251 consecutive; cone cone; cone rod; cone ... See more keywords