S267P mutation in FGFR2: first report in a patient with Crouzon syndrome

The Journal of Craniofacial Surgery
Ronghu KeXiongzheng Mu

Abstract

It has been known for several years that mutations in the fibroblast growth factor receptor (FGFR2) result in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Here, we report on a child with a clinically diagnosed Crouzon syndrome that shows the missense point mutation S267P in FGFR2 gene. The mutation is firstly identified in Crouzon syndrome. Our observations expand the molecular spectrum of FGFR2 mutations in the syndrome.

References

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Citations

Dec 13, 2016·The Journal of Craniofacial Surgery·Hanghang LiuEn Luo
Oct 16, 2015·The Journal of Craniofacial Surgery·Mi Tang, Xiao Jie Huang

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