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Letter

Nature Genetics 38, 452–457 (1 April 2006) | doi:10.1038/ng1764

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Paul J Coucke , Andy Willaert , Marja W Wessels , Bert Callewaert , Nicoletta Zoppi , Julie De Backer , Joyce E Fox , Grazia M S Mancini , Marios Kambouris , Rita Gardella , Fabio Facchetti , Patrick J Willems , Ramses Forsyth , Harry C Dietz , Sergio Barlati , Marina Colombi , Bart Loeys & Anne De Paepe

Arterial tortuosity syndrome (ATS) is an autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries owing to disruption of elastic fibers in the medial layer of the arterial wall. Previously, we used homozygosity mapping to map a candidate locus in a 4.1-Mb region on chromosome 20q13.1 (ref.