Articles with "features poc1b" as a keyword



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Phenotypic and genotypic features of POC1B-associated cone dystrophy.

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Published in 2023 at "Ophthalmic genetics"

DOI: 10.1080/13816810.2023.2204361

Abstract: PURPOSE Patients with cone dystrophy (CD) can present with virtually normal retinal appearance, which may delay diagnosis. This study describes the inconspicuous clinical features of POC1B-associated CD in two Saudi families. METHODS This is a… read more here.

Keywords: phenotypic genotypic; poc1b associated; cone dystrophy; features poc1b ... See more keywords