Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome

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American Society for Clinical Investigation.

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Abstract

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal-dominant connective tissue disorder caused by heterozygous mutations in the COL3A1 gene, which encodes the pro-α 1 chain of collagen III. Loss of...

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Bowen CJ, Calderón Giadrosic JF, Burger Z, et al. Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome. J Clin Invest. 2020;130(2):686-698. doi:10.1172/JCI130730

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