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Retinal Dystrophy analysis

ABSTRACT: Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over 270 genes have been associated with IRD which makes genetic diagnosis very difficult. The recent advent of next generation sequencing has greatly facilitated the diagnosis process, making possible to provide the patients with accurate genetic counseling in some cases. We studied 92 patients clinically diagnosed with IRD with two different custom -panels.

PROVIDER: EGAS00001005369 | EGA |

REPOSITORIES: EGA

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