Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.

@article{Pannier2010DelayedBA,
  title={Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.},
  author={St{\'e}phanie Pannier and Emilie Mugniery and Aur{\'e}lie Jonquoy and Catherine Benoist-Lasselin and Thierry Odent and Jean-Philippe Jais and Arnold Munnich and Laurence Legeai-Mallet},
  journal={Bone},
  year={2010},
  volume={47 5},
  pages={
          905-15
        }
}
Achondroplasia (ACH), the most common form of human dwarfism is caused by a mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene, resulting in constitutive activation of the receptor. Typical radiological features include shortening of the tubular bones and macrocephaly, due to disruption of endochondral ossification. Consequently, FGFR3 has been described as a negative regulator of bone growth. Studying a large cohort of ACH patients, a delay in bone age was observed shortly after… CONTINUE READING
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