Articles with "dominant rpgr" as a keyword



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X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

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Published in 2021 at "BMC Ophthalmology"

DOI: 10.1186/s12886-020-01791-5

Abstract: Background Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the… read more here.

Keywords: rpgr gene; family; dominant rpgr; linked dominant ... See more keywords