Genetic basis of potential therapeutic strategies for craniosynostosis

@article{Melville2010GeneticBO,
  title={Genetic basis of potential therapeutic strategies for craniosynostosis},
  author={Heather Melville and Yingli Wang and Peter J. Taub and Ethylin Wang Jabs},
  journal={American Journal of Medical Genetics Part A},
  year={2010},
  volume={152A}
}
Craniosynostosis, the premature fusion of one or more cranial sutures, is a common malformation of the skull that can result in facial deformity and increased intracranial pressure. Syndromic craniosynostosis is present in ∼15% of craniosynostosis patients and often is clinically diagnosed by neurocranial phenotype as well as various other skeletal abnormalities. The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR… 
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