Genetics in medicine : official journal of the American College of Medical Genetics, cilt.20, sa.10, ss.1236-1245, 2018 (SCI-Expanded)
Purpose: We delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.