A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly

Masaki Takagi, Masanori Kouwaki, Koya Kawase, Hiroyuki Shinohara, Yukihiro Hasegawa, Takahiro Yamada, Ikuma Fujiwara, Hideaki Sawai, Gen Nishimura, Tomonobu Hasegawa

Research output: Contribution to journalLetter

4 Citations (Scopus)
Original languageEnglish
Pages (from-to)2851-2854
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number11
DOIs
Publication statusPublished - 2015 Nov

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Takagi, M., Kouwaki, M., Kawase, K., Shinohara, H., Hasegawa, Y., Yamada, T., Fujiwara, I., Sawai, H., Nishimura, G., & Hasegawa, T. (2015). A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. American Journal of Medical Genetics, Part A, 167(11), 2851-2854. https://doi.org/10.1002/ajmg.a.37231