Article
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.
Molecular genetics and metabolism - 1 May 2011
Markello Thomas C, Pak Laura K, St Hilaire Cynthia, Dorward Heidi, Ziegler Shira G, Chen Marcus Y, Chaganti Krishna, Nussbaum Robert L, Boehm Manfred, Gahl William A
Abstract excerpt
Arterial Calcification due to Deficiency of CD73 (ACDC) results from mutations in the NT5E gene encoding the 5' exonucleotidase, CD73. We now describe the third familial case of ACDC, including radiological and histopathological details of the arterial calcifications. The medial lesions involve the entire circumference of the elastic lamina, in contrast to the intimal plaque-like disease of atherosclerosis. The...
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