Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2
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DOI: 10.1080/13816810.2019.1605393
Abstract: Peripherin 2-associated retinopathies are phenotypically heterogenous and can present as autosomal dominant retinitis pigmentosa, cone-rod dystrophy, various forms of macular and pattern dystrophies, or recessive retinopathy (1,2). We report a case of rod-cone dystrophy associated… read more here.
Keywords: gly167asp; dystrophy; dystrophy associated; rod cone ... See more keywords