Open access
Oct 2026
Loss of function variants in ADAMTS6: a new connective tissue disorder with heart defect, aortic aneurysm and neurodevelopmental features.
PURPOSE Marfan syndrome, Loeys-Dietz syndrome, and heritable thoracic aortic aneurysms and dissections (hTAAD) are autosomal dominant connective-tissue disorders with overlapping features and considerable genetic variability. Many cases arise from pathogenic variants affecting extracellular matrix (ECM) components or T...
Júlia Huguet Herrero, P. Arnaud, A. Bibimbou et al.
· Genetics in Medicine · 0 citations