Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease (original) (raw)

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Acknowledgements

We thank our patients for their participation. This study was supported by Grants-in-Aid (11470507 for N.N.; 11672252 for K.Y.; 10770489 for H.T.) from Ministry of Education, Science, Sports and Culture, and from Ministry of Health and Welfare of Japan.

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Author notes

  1. Akira Kinoshita and Koh-ichiro Yoshiura: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan
    Akira Kinoshita, Hiro-aki Tomita, Mohsen Ghadami, Koki Yamada, Shinji Kondo, Norio Niikawa & Koh-ichiro Yoshiura
  2. Department of Biochemistry, Osaka University Faculty of Medicine, Suitashi, Osaka, Japan
    Takashi Saito & Naoyuki Taniguchi
  3. Department of Pediatrics, Asahikawa Medical College, Asahikawa, Hokkaido, Japan
    Yoshio Makita
  4. Department of Public Health, Asahikawa Medical College, Asahikawa, Hokkaido, Japan
    Yoshio Makita
  5. Third Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
    Kunihiro Yoshida
  6. Department of Medical Genetics and Division of Clinical and Molecular Genetics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan
    Yoshimitsu Fukushima
  7. Human Genome Center, Institute of Medical Science, University of Tokyo, Minato-ku, Tokyo, Japan
    Shiro Ikegawa
  8. Department of Radiology, Dokkyo University School of Medicine, Shimotsuga-gun, Tochigi, Japan
    Gen Nishimura
  9. Asahigawa-Ryoikuen Children's Hospital for Physically Disabled, Okayama, Japan
    Tadashi Nakagomi
  10. Department of Orthopedic Surgery, Akita University School of Medicine, Akita, Japan
    Haruki Saito
  11. Department of Pediatrics, Kansai University Otokoyama Hospital, Yawata, Kyoto, Japan
    Takeo Sugimoto
  12. Division of Orthopedic Surgery, Chiba Children's Hospital, Chiba, Japan
    Makoto Kamegaya
  13. Department of Orthopedic Surgery, National Chushin Matsumoto Hospital, Matsumoto, Nagano, Japan
    Kenji Hisa
  14. Department of Pediatrics and Biological Science, University of Iowa, Iowa City, Iowa, USA
    Jeffrey C. Murray

Authors

  1. Akira Kinoshita
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  2. Takashi Saito
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  3. Hiro-aki Tomita
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  4. Yoshio Makita
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  5. Kunihiro Yoshida
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  6. Mohsen Ghadami
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  7. Koki Yamada
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  8. Shinji Kondo
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  9. Shiro Ikegawa
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  10. Gen Nishimura
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  11. Yoshimitsu Fukushima
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  12. Tadashi Nakagomi
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  13. Haruki Saito
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  14. Takeo Sugimoto
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  15. Makoto Kamegaya
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  16. Kenji Hisa
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  17. Jeffrey C. Murray
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  18. Naoyuki Taniguchi
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  19. Norio Niikawa
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  20. Koh-ichiro Yoshiura
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Corresponding authors

Correspondence toAkira Kinoshita or Koh-ichiro Yoshiura.

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Kinoshita, A., Saito, T., Tomita, Ha. et al. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.Nat Genet 26, 19–20 (2000). https://doi.org/10.1038/79128

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