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Article

X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.

Ophthalmology. Retina - 1 May 2020

Fahim Abigail T, Sullivan Lori S, Bowne Sara J, Jones Kaylie D, Wheaton Dianna K H, Khan Naheed W, Heckenlively John R, Jayasundera K Thiran, Branham Kari H, Andrews Chris A, Othman Mohammad I, Karoukis Athanasios J, Birch David G, Daiger Stephen P

Abstract excerpt

PURPOSE: X-linked retinitis pigmentosa can manifest in female carriers with widely variable severity, whereas others remain unaffected. The contribution of X-chromosome inactivation (XCI) to phenotypic variation has been postulated but not demonstrated. Furthermore, the impact of genotype and genetic modifiers has been demonstrated in affected males but has not been well established in female carriers. The...

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Identifiers

PMID: 31953110
DOI: 10.1016/j.oret.2019.11.010
PMCID: PMC7211129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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