Associated Papers
A familial missense ACTA2 variant p.Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and lethal aortic dissection.
Focke JK et al.
Neurological Research and Practice, 2023
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A et al.
American Journal of Medical Genetics. Part A, 2022
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