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Article

Circulating Endothelial Markers in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations.

Stroke - 1 Dec 2017

Pelzer Nadine, Bijkerk Roel, Reinders Marlies E J, van Zonneveld Anton Jan, Ferrari Michel D, van den Maagdenberg Arn M J M, Eikenboom Jeroen, Terwindt Gisela M

Abstract excerpt

BACKGROUND AND PURPOSE: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a monogenic small vessel disease, caused by C-terminal truncating TREX1 mutations, that can be considered a model for stroke and vascular dementia. The pathophysiology of RVCL-S is largely unknown, but systemic endothelial involvement has been suggested, leading to pathology in the brain and...

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Source

Identifiers

PMID: 29114091
DOI: 10.1161/STROKEAHA.117.018556

Genes

VWF
TREX1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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