Noonan syndrome.

@article{Roberts2013NoonanS,
  title={Noonan syndrome.},
  author={Amy E. Roberts and Judith Allanson and M Tartaglia and Bruce D Gelb},
  journal={Lancet},
  year={2013},
  volume={381 9863},
  pages={333-42}
}
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype-phenotype correlations aid risk… CONTINUE READING

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