Article
Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III.
European journal of medical genetics - 1 Feb 2022
Dekker Silvy, Thijssen Carlijn G E, Linde Denise Vd, Vd Laar Ingrid M B H, Saris Jasper J, van Es Adriaan C G M, Doormaal Pieter-Jan van, van Bronswijk Paul, van Kooten Fop, Roos-Hesselink Jolien W
Abstract excerpt
The aim of this article is to describe neurovascular findings in patients with Loeys Dietz syndrome type III and their possible clinical impact. Loeys Dietz syndrome type III, caused by pathogenic SMAD3 variants, is an autosomal dominant syndrome characterized by aneurysms and arterial tortuosity in combination with osteoarthritis. Neurovascular abnormalities have been described in other heritable aortic...
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