Article
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
American journal of human genetics - 7 May 2015
Mlynarski Elisabeth E, Sheridan Molly B, Xie Michael, Guo Tingwei, Racedo Silvia E, McDonald-McGinn Donna M, Gai Xiaowu, Chow Eva W C, Vorstman Jacob, Swillen Ann, Devriendt Koen, Breckpot Jeroen, Digilio Maria Cristina, Marino Bruno, Dallapiccola Bruno, Philip Nicole, Simon Tony J, Roberts Amy E, Piotrowicz Małgorzata, Bearden Carrie E, Eliez Stephan, Gothelf Doron, Coleman Karlene, Kates Wendy R, Devoto Marcella, Zackai Elaine, Heine-Suñer Damian, Shaikh Tamim H, Bassett Anne S, Goldmuntz Elizabeth, Morrow Bernice E, Emanuel Beverly S
Abstract excerpt
The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that...
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