A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

@article{Muenke1994ACM,
  title={A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome},
  author={Maximilian Muenke and Ute Schell and Andreas Hehr and Nathaniel H Robin and H. Wolfgang Losken and Albert A. Schinzel and Louise J. Pulleyn and P. L. Rutland and William J. Reardon and S. Duthie Malcolm and Robin Winter},
  journal={Nature Genetics},
  year={1994},
  volume={8},
  pages={269-274}
}
Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one of the genes for PS to the centromeric region of chromosome 8 by linkage analysis. Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to… CONTINUE READING
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