Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

@article{Lee2011SpectrumOM,
  title={Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.},
  author={Beom Hee Lee and Jae-Min Kim and Hye Young Jin and Gu Hwan Kim and Jin Ho Choi and Han Wook Yoo},
  journal={The Journal of pediatrics},
  year={2011},
  volume={159 6},
  pages={1029-35}
}
OBJECTIVES To investigate mutation spectrums and their correlations to phenotypes in Noonan syndrome (NS) and NS-related disorders that share functional alterations of the Ras-mitogen-activated protein kinase pathway. STUDY DESIGN Clinical characteristics and genotypes of 10 previously known and 2 candidate genes, SPRY1-4 and SPRED1, were investigated in 59 patients with NS, 17 with cardiofaciocutaneous syndrome, 5 with Costello syndrome, and 2 with LEOPARD syndrome. RESULTS PTPN11 (39.0… CONTINUE READING

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