Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

@article{Gorry1995CrouzonSM,
  title={Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.},
  author={Michael C. Gorry and Robert A. Preston and Gerard J. White and Yong-yuan Zhang and Virender K. Singhal and H. Wolfgang Losken and Malcolm G. Parker and Ngozi A Nwokoro and James Christopher Post and Garth D. Ehrlich},
  journal={Human molecular genetics},
  year={1995},
  volume={4 8},
  pages={1387-90}
}
Dominant mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of four phenotypically distinct craniosynostosis syndromes, including Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes. These data suggest that the genetics of the craniosynostosis syndromes is more complex than would be expected from their simple autosomal-dominant inheritance pattern. Identical mutations in the FGFR2 gene have been reported to cause both Pfeiffer and Crouzon… CONTINUE READING

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