Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

@article{Moloney1997PrevalenceOP,
  title={Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis},
  author={D. Moloney and S. Wall and G. Ashworth and M. Oldridge and A. Wilkie},
  journal={The Lancet},
  year={1997},
  volume={349},
  pages={1059-1062}
}
BACKGROUND The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. We aimed to find out the proportion of cases of apparently non-syndromic coronal craniosynostosis attributable to this mutation. METHODS We studied 26 patients with coronal craniosynostosis but no syndromic diagnosis, who were referred to a supra-regional specialist centre. Genomic DNA was analysed by PCR and restriction… Expand
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