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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Publicat a:Hum Mol Genet
Autors principals: 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
Idioma:Inglês
Publicat: Oxford University Press 2015
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Articles
Accés en línia: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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