A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

@article{Bellus1995ARM,
  title={A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia},
  author={Gary A. Bellus and Iain Mcintosh and Eric A. Smith and Arthur S. Aylsworth and Ilkka I Kaitila and William A Horton and Giselle A. Greenhaw and Jacqueline Tauber Hecht and Clair A. Francomano},
  journal={Nature Genetics},
  year={1995},
  volume={10},
  pages={357-359}
}
Hypochondroplasia (MIM 146000) is an autosomal dominant skeletal dysplasia with skeletal features similar to but milder than those seen in achondroplasia1–4. Within the past year, the achondroplasia locus has been mapped to 4p16.3 (refs 5–7) and mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in patients with the disorder8,9. More than 95% of 242 cases reported so far are accounted for by a single Gly380Arg mutation8–11. McKusick et al.12 proposed that… CONTINUE READING
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