Taiwanese Journal of Obstetrics & Gynecology (Jun 2017)

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia

  • Chih-Ping Chen,
  • Shuan-Pei Lin,
  • Yu-Peng Liu,
  • Schu-Rern Chern,
  • Shin-Wen Chen,
  • Shih-Ting Lai,
  • Wayseen Wang

DOI
https://doi.org/10.1016/j.tjog.2017.04.030
Journal volume & issue
Vol. 56, no. 3
pp. 412 – 414

Abstract

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