Characterization of a novel KRAS mutation identified in Noonan syndrome

@article{Razzaque2012CharacterizationOA,
  title={Characterization of a novel KRAS mutation identified in Noonan syndrome},
  author={Md. Abdur Razzaque and Yuta Komoike and Tsutomu Nishizawa and Kei Inai and Michiko Furutani and Toru Higashinakagawa and Rumiko Matsuoka},
  journal={American Journal of Medical Genetics Part A},
  year={2012},
  volume={158A}
}
Noonan syndrome (NS) is the most common non‐chromosomal syndrome seen in children and is characterized by short stature, dysmorphic facial features, chest deformity, a wide range of congenital heart defects and developmental delay of variable degree. Mutations in the Ras/mitogen‐activated protein kinase (MAPK) signaling pathways cause about 70% of NS cases with a KRAS mutation present in about 2%. In a cohort of 65 clinically confirmed NS patients of Japanese origin, we screened for mutations… 
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TLDR
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