Article
Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1.
Hypertension (Dallas, Tex. : 1979) - 1 Jan 2014
Kozel Beth A, Danback Joshua R, Waxler Jessica L, Knutsen Russell H, de las Fuentes Lisa, Reusz Gyorgy S, Kis Eva, Bhatt Ami B, Pober Barbara R
Abstract excerpt
Williams syndrome is caused by the deletion of 26 to 28 genes, including elastin, on human chromosome 7. Elastin insufficiency leads to the cardiovascular hallmarks of this condition, namely focal stenosis and hypertension. Extrapolation from the Eln(+/-) mouse suggests that affected people may also have stiff vasculature, a risk factor for stroke, myocardial infarction, and cardiac death. NCF1, one of the...
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