The most expressed NOX isoform in endothelial cells is NOX4, while NOX2 is highly expressed in macrophages and other phagocytic cells [1]
The fact that i) these 8 patients were diagnosed years ago [12], ii) none of them originally experienced major vascular events (1 individual with the COL1A1 variant showed aortic ectasia, uncomplicated tortuous vertebral arteries, and left ventricular thickening), and iii) all underwent periodical vascular surveillance that resulted negative at the time of writing, suggests that the supposed genotype-phenotype correlations of these variants should not be considered valid in all cases
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