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

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 translocation carrier with pervasive developmental delay who also exhibited LVOT...

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Published in:Hum Mol Genet
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4380077/
https://ncbi.nlm.nih.gov/pubmed/25574029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv004
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