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- W4281740282 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 (×lRP), showing the deletion of the entire RPGR gene. Gene therapy for inherited retinal diseases holds great promise; however, so far there has been no approved treatment of RPGR-mediated retinitis pigmentosa. The presented evidence of genotype–phenotype correlation may be useful for genetic diagnosis or even genetic treatment in the near future." @default.
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- W4281740282 date "2022-06-01" @default.
- W4281740282 modified "2023-09-24" @default.
- W4281740282 title "The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa" @default.
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- W4281740282 doi "https://doi.org/10.1080/13816810.2022.2083181" @default.
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