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Acromesomelic dysplasia,type maroteaux caused by novel loss‐of‐function mutations of the NPR2 gene: Three case reports
Authors:Wei Wang  Mi Hyun Song  Kohji Miura  Makoto Fujiwara  Nobutoshi Nawa  Yasuhisa Ohata  Taichi Kitaoka  Takuo Kubota  Noriyuki Namba  Dong Kyu Jin  Ok Hwa Kim  Keiichi Ozono  Tae‐Joon Cho
Institution:1. Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan;2. Department of Orthopaedic Surgery, Jeju National University Hospital, Jeju, Republic of Korea;3. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea;4. Department of Radiology, Woorisoa Children's Hospital, Seoul, Republic of Korea;5. Correspondence to:;6. Dr. Keiichi Ozono, Department of Pediatrics, Osaka University Graduate School of Medicine, Yamadaoka, Suita, Osaka 565‐0871, Japan.;7. E‐mail:;8. Dr. Tae‐Joon Cho, Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, 101 Daehak‐ro Jongno‐gu, Seoul 110‐744, Republic of Korea.;9. E‐mail:;10. Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea
Abstract:
Keywords:acromesomelic dysplasia  type Maroteaux  C‐type natriuretic peptide  NPR2  short stature  cGMP
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