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A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly
Authors:Masaki Takagi  Masanori Kouwaki  Koya Kawase  Hiroyuki Shinohara  Yukihiro Hasegawa  Takahiro Yamada  Ikuma Fujiwara  Hideaki Sawai  Gen Nishimura  Tomonobu Hasegawa
Affiliation:1. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan;2. Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan;3. Department of Pediatrics (Neonates), Toyohashi Municipal Hospital, Aichi, Japan;4. Department of Neonatology and Pediatrics, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan;5. Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Hokkaido, Japan;6. Department of Pediatrics, Tohoku University School of Medicine, Miyagi, Japan;7. Department of Obstetrics and Gynecology, Hyogo College of Medicine, Hyogo, Japan;8. Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan
Abstract:
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