Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A

@article{Duffy2015MosaicPD,
  title={Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A},
  author={Elizabeth A Duffy and P. Pretorius and Stephanie Lerach and J. Lohr and B. Hirsch and C. M. Souza and A. Veillette and L. Schimmenti},
  journal={American Journal of Medical Genetics Part A},
  year={2015},
  volume={167},
  pages={2674 - 2683}
}
Congenital heart malformations, including those of the great vessels, are among the most common human birth defects. The goal of this study was to identify the significance of a de novo mosaic PTPN12 partial deletion identified in a newborn with an interrupted aortic arch type A, ventricular septal defect, and pyloric stenosis. PTPN12, a downstream target of the RAS pathway, has a known role in endothelial cell adhesion and migration. Neither genetic nor genomic variants in PTPN12 have been… Expand
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