Article
Mosaic partial deletion of PTPN12 in a child with interrupted aortic arch type A.
American journal of medical genetics. Part A - 1 Nov 2015
Duffy Elizabeth A, Pretorius Pamela R, Lerach Stephanie, Lohr Jamie L, Hirsch Betsy, Souza Cleiton M, Veillette André, Schimmenti Lisa A
Abstract excerpt
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...
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