Article
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Human mutation - 1 Jan 2008
Callewaert B L, Willaert A, Kerstjens-Frederikse W S, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo M A, Doco-Fenzy M, Hennekam R C M, Pyeritz R E, Krogmann O N, Gillessen-kaesbach G, Wakeling E L, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys B L, Coucke P J, De Paepe A M
Abstract excerpt
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation, tortuosity, and aneurysms of the large and middle-sized arteries. Recently, SLC2A10 mutations were identified in this condition. This gene encodes the glucose transporter GLUT10 and was previously suggested as a candidate gene for diabetes mellitus type 2. A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.