Stroke
COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults.
Dominique Hervé, Saskia A J Lesnik Oberstein, Eva Pipiras, Steven J Kittner, Dimitri Renard, Hélène Morel, Françoise Bergametti, Michaelle Corpechot, Esther A R Nibbeling, Gwenola Boulday, Stéphanie Guey, Chaker Aloui, Hugues Chabriat, Elisabeth Tournier-Lasserve, Thibault Coste
Published: 202610.1161/STROKEAHA.125.053813
Abstract
BACKGROUND: Cerebral small vessel disease (CSVD) is a major cause of stroke and vascular cognitive impairment, yet its mechanisms remain incompletely understood. While heterozygous point mutations in COL4A1 and COL4A2 are established monogenic cause…
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