A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.

Abstract

American Journal of Medical Genetics Part AVolume 170, Issue 5 p. 1370-1372 Research Letter A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia Kosei Hasegawa, Corresponding Author Kosei Hasegawa Department of Pediatrics, Okayama University Hospital, Okayama, Japan Correspondence to: Dr. Kosei Hasegawa, Department of Pediatrics, Okayama University Hospital, 2-5-1, Shikata-cho, Kita-Ku, Okayama 700-8558, Japan. E-mail: haseyan@md.okayama-u.ac.jpSearch for more papers by this authorRie Fukuhara, Rie Fukuhara Department of Neonatalogy, Hiroshima Prefectural Hospital, Hiroshima, JapanSearch for more papers by this authorTadashi Moriwake, Tadashi Moriwake Department of Pediatrics, Iwakuni Clinical Center, National Hospital Organization, Iwakuni, JapanSearch for more papers by this authorHiroyuki Tanaka, Hiroyuki Tanaka Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, JapanSearch for more papers by this authorYousuke Higuchi, Yousuke Higuchi Department of Pediatrics, Okayama University Hospital, Okayama, JapanSearch for more papers by this authorMiho Yamashita, Miho Yamashita Department of Pediatrics, Okayama University Hospital, Okayama, JapanSearch for more papers by this authorHirokazu Tsukahara, Hirokazu Tsukahara Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, JapanSearch for more papers by this author Kosei Hasegawa, Corresponding Author Kosei Hasegawa Department of Pediatrics, Okayama University Hospital, Okayama, Japan Correspondence to: Dr. Kosei Hasegawa, Department of Pediatrics, Okayama University Hospital, 2-5-1, Shikata-cho, Kita-Ku, Okayama 700-8558, Japan. E-mail: haseyan@md.okayama-u.ac.jpSearch for more papers by this authorRie Fukuhara, Rie Fukuhara Department of Neonatalogy, Hiroshima Prefectural Hospital, Hiroshima, JapanSearch for more papers by this authorTadashi Moriwake, Tadashi Moriwake Department of Pediatrics, Iwakuni Clinical Center, National Hospital Organization, Iwakuni, JapanSearch for more papers by this authorHiroyuki Tanaka, Hiroyuki Tanaka Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, JapanSearch for more papers by this authorYousuke Higuchi, Yousuke Higuchi Department of Pediatrics, Okayama University Hospital, Okayama, JapanSearch for more papers by this authorMiho Yamashita, Miho Yamashita Department of Pediatrics, Okayama University Hospital, Okayama, JapanSearch for more papers by this authorHirokazu Tsukahara, Hirokazu Tsukahara Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, JapanSearch for more papers by this author First published: 11 January 2016 https://doi.org/10.1002/ajmg.a.37557Citations: 9 Conflict of interest: There are no conflicts of interest to declare. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume170, Issue5May 2016Pages 1370-1372 RelatedInformation