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Article

Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations.

Life science alliance - 1 Oct 2023

Usman Muhammad, Jüschke Christoph, Song Fei, Kastrati Dennis, Owczarek-Lipska Marta, Eilers Jannis, Pauleikhoff Laurenz, Lange Clemens, Neidhardt John

Abstract excerpt

Progressive degeneration of rod and cone photoreceptors frequently is caused by mutations in the X-chromosomal gene Retinitis Pigmentosa GTPase Regulator (RPGR). Males hemizygous for a RPGR mutation often are affected by Retinitis Pigmentosa (RP), whereas female mutation carriers only occasionally present with severe RP phenotypes. The underlying pathomechanism leading to RP in female carriers is not well...

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Identifiers

PMID: 37541846
DOI: 10.26508/lsa.202201814
PMCID: PMC10403639

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