Development of a functional model to determine the pathogenicity of COL4A1- and COL4A2-variants of unknown significance in cerebrovascular disorders and aortic aneurysms. University of Antwerp
COL4A1- and COL4A2-related disorders cause a broad spectrum of problems comprising abnormal brain development, brain hemorrhage at any age, aneurysms (local dilatations) of the brain arteries, but also eye or renal problems. In clinical practice, both genes are studied in disorders of brain vasculature or development and are included in gene panels to study individuals with intellectual disability. These investigations sometimes identify ...