The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2083181
Abstract: ABSTRACT Clinical phenotypes of a patient with a deletion of the entire RPGR gene have not been described in the literature yet. We hereby report a new mutation in a family of X-linked retinitis pigmentosa… read more here.
Keywords: rpgr; deletion entire; retinitis pigmentosa; rpgr gene ... See more keywords
X-linked dominant RPGR gene mutation in a familial Coats angiomatosis
Sign Up to like & getrecommendations! 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