Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
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DOI: 10.3390/ijms20194854
Abstract: Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of… read more here.
Keywords: underlying genetic; genetic defects; rod dystrophies; cone cone ... See more keywords