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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Bibliografiska uppgifter
I publikationen:Hum Mol Genet
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2015
Ämnen:
Articles
Länkar: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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