The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa
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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