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Autor:
Silvy, Dekker, Carlijn G E, Thijssen, Denise Vd, Linde, Ingrid M B H, Vd Laar, Jasper J, Saris, Adriaan C G M, van Es, Pieter-Jan van, Doormaal, Paul, van Bronswijk, Fop, van Kooten, Jolien W, Roos-Hesselink
Publikováno v:
European Journal of Medical Genetics, 65(2):104424. Elsevier Masson
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 cha