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A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia
Authors:Yoshihiko Imamura  Tatsuro Kondoh  Tsutomu Kamei  Akira Tsuru  Yukiharu Shimasaki  Eiichi Kinoshita  Tadashi Matsumoto  Hiroyuki Moriuchi
Affiliation:Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki City, Japan.
Abstract:
Keywords:achondroplasia    creatine phosphokinase    developmental delay    fibroblast growth factor receptor 3    respiratory failure
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