Articles with "rpgr related" as a keyword



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Is RPGR-related retinal dystrophy associated with systemic disease? A case series.

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Published in 2023 at "Ophthalmic genetics"

DOI: 10.1080/13816810.2022.2163405

Abstract: BACKGROUND Ciliopathies responsible for retinitis pigmentosa can also cause systemic manifestations. RPGR is a ciliary gene and pathogenic variants in RPGR cause a retinal ciliopathy, the commonest cause of X-linked recessive retinitis pigmentosa. The RPGR… read more here.

Keywords: case series; systemic disease; case; rpgr related ... See more keywords