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Article

RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.

International journal of molecular sciences - 28 Jan 2020

Nguyen Xuan-Thanh-An, Talib Mays, van Schooneveld Mary J, Brinks Joost, Ten Brink Jacoline, Florijn Ralph J, Wijnholds Jan, Verdijk Robert M, Bergen Arthur A, Boon Camiel J F

Abstract excerpt

This study describes the clinical, genetic, and histopathological features in patients with RPGR-associated retinal dystrophies. Nine male patients from eight unrelated families underwent a comprehensive ophthalmic examination. Additionally, the histopathology of the right eye from a patient with an end-stage cone-rod-dystrophy (CRD)/sector retinitis pigmentosa (RP) phenotype was examined. All RPGR mutations...

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Identifiers

PMID: 32012938
DOI: 10.3390/ijms21030835
PMCID: PMC7038140

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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