Achondroplasia

@article{Horton2007Achondroplasia,
  title={Achondroplasia},
  author={W. Horton and J. Hall and J. Hecht},
  journal={The Lancet},
  year={2007},
  volume={370},
  pages={162-172}
}
  • W. Horton, J. Hall, J. Hecht
  • Published 2007
  • Medicine
  • The Lancet
  • Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many tissues, most strikingly the cartilaginous growth plate in the growing skeleton, leading to a variety of manifestations and complications. The… CONTINUE READING
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