Ontology highlight
ABSTRACT:
SUBMITTER: Runtuwene V
PROVIDER: S-EPMC3097460 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Runtuwene Vincent V van Eekelen Mark M Overvoorde John J Rehmann Holger H Yntema Helger G HG Nillesen Willy M WM van Haeringen Arie A van der Burgt Ineke I Burgering Boudewijn B den Hertog Jeroen J
Disease models & mechanisms 20110124 3
Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras-mitogen-activated-protein-kinase (MAPK) signaling pathway. Recently, two mutations in NRAS were reported to be associated with Noonan syndrome, T50I and G60E. Here, we report a mutation in NRAS, resulting in an I24N amino acid substitution, that we identified in an individual bearing typical ...[more]