Germline KRAS mutations cause Noonan syndrome

@article{Schubbert2006GermlineKM,
  title={Germline KRAS mutations cause Noonan syndrome},
  author={Suzanne Schubbert and M. Zenker and Sara L. Rowe and S. B{\"o}ll and C. Klein and G. Bollag and I. V. D. Burgt and L. Musante and V. Kalscheuer and Lars-Erik Wehner and H. Nguyen and B. West and K. Zhang and E. Sistermans and A. Rauch and C. Niemeyer and K. Shannon and C. 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… Expand
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