Noonan Syndrome: Genetics and Responsiveness to Growth Hormone Therapy

@article{Binder2007NoonanSG,
  title={Noonan Syndrome: Genetics and Responsiveness to Growth Hormone Therapy},
  author={Gerhard Binder and Nicola E. Wittekindt and Michael B. Ranke},
  journal={Hormone Research in Paediatrics},
  year={2007},
  volume={67},
  pages={45 - 49}
}
Background: The autosomal-dominant Noonan syndrome (MIM 163950) is characterized by short stature, heart defects, characteristic facial dysmorphic features and other major and minor anomalies. Its incidence has been estimated to be 1 in 1,000 to 2,500 live births. Familial cases are frequent. Methods and Results: Recently, molecular data have suggested that deregulation of signaling through the Ras-mitogen-activated protein kinase (Ras-MAPK) pathway was the main molecular basis of Noonan… Expand

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