Germline KRAS mutations cause Noonan syndrome

@article{Schubbert2006GermlineKM,
  title={Germline KRAS mutations cause Noonan syndrome},
  author={Suzanne Schubbert and Martin Zenker and Sara L. Rowe and Silke B{\"o}ll and Cornelia Klein and Gideon Bollag and Ineke van der Burgt and Luciana Musante and Vera M. Kalscheuer and Lars-Erik Wehner and Hoa T. Nguyen and Brian L. West and Kam Y. J. Zhang and Erik A. Sistermans and Anita Rauch and Charlotte M. Niemeyer and Kevin Shannon and Christian Peter Kratz},
  journal={Nature Genetics},
  year={2006},
  volume={38},
  pages={331-336}
}
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause ∼50% of cases of Noonan syndrome. The SHP-2 phosphatase relays signals from activated receptor complexes to downstream effectors, including Ras. We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with… 
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