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    • MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus 

      Quintero-Rivera, Fabiola; Xi, Qiongchao J.; Keppler-Noreuil, Kim M.; Lee, Ji Hyun; Higgins, Anne W.; Anchan, Raymond M.; Roberts, Amy E.; Seong, Ihn Sik; Fan, Xueping; Lage, Kasper; Lu, Lily Y.; Tao, Joanna; Hu, Xuchen; Berezney, Ronald; Gelb, Bruce D.; Kamp, Anna; Moskowitz, Ivan P.; Lacro, Ronald V.; Lu, Weining; Morton, Cynthia C.; Gusella, James F.; Maas, Richard L. (Oxford University Press, 2015)
      Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for which gene identification has been difficult. We describe a 46,XY,t(1;5)(p36.11;q31.2)dn ...