About the Authors
- Zheng Wang
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Contributed equally to this work with: Zheng Wang, Aritoshi Iida, Noriko Miyake
Affiliations Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108–8639, Japan, McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100005, China
- Aritoshi Iida
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Contributed equally to this work with: Zheng Wang, Aritoshi Iida, Noriko Miyake
Affiliation Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108–8639, Japan
- Noriko Miyake
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Contributed equally to this work with: Zheng Wang, Aritoshi Iida, Noriko Miyake
Affiliation Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236–0004, Japan
- Koji M. Nishiguchi
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Affiliation Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, 980–8574, Japan
- Kosuke Fujita
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Affiliation Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, 980–8574, Japan
- Toru Nakazawa
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Affiliations Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, 980–8574, Japan, Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, 980–8574, Japan, Department of Opthalmology, Tohoku University Graduate School of Medicine, Sendai, 980–8574, Japan
- Abdulrahman Alswaid
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Affiliation Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, 22490, Saudi Arabia
- Mohammed A. Albalwi
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Affiliation Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, 22490, Saudi Arabia
- Ok-Hwa Kim
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Affiliation Department of Radiology, Woorisoa Children's Hospital, Seoul, 08291, Republic of Korea
- Tae-Joon Cho
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Affiliation Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea
- Gye-Yeon Lim
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Affiliation Department of Radiology, St. Mary’s Hospital, The Catholic University, Seoul, 07345, Republic of Korea
- Bertrand Isidor
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Affiliation CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France
- Albert David
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Affiliation CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France
- Cecilie F. Rustad
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Affiliation Department of Medical Genetics, Section for Clinical Genetics, Oslo University Hospital, Oslo, 0424, Norway
- Else Merckoll
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Affiliation Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway
- Jostein Westvik
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Affiliation Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway
- Eva-Lena Stattin
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Affiliation Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, 90187, Sweden
- Giedre Grigelioniene
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Affiliation Department of Clinical Genetics and Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, 17176, Sweden
- Ikuyo Kou
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Affiliation Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108–8639, Japan
- Masahiro Nakajima
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Affiliation Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108–8639, Japan
- Hirohumi Ohashi
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Affiliation Division of Medical Genetics, Saitama Children’s Medical Center, Saitama, 339–8551, Japan
- Sarah Smithson
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Affiliation Department of Clinical Genetics, St. Michaels Hospital, Bristol, BS2 8EG, United Kingdom
- Naomichi Matsumoto
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Affiliation Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236–0004, Japan
- Gen Nishimura
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Affiliation Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, 183–8561, Japan
- Shiro Ikegawa
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* E-mail: sikegawa@ims.u-tokyo.ac.jp
Affiliation Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108–8639, Japan
Competing Interests
The authors have declared that no competing interests exist.
Author Contributions
Conceived and designed the experiments: ZW AI N. Miyake KMN SI. Performed the experiments: ZW AI N. Miyake KMN KF TN HO. Analyzed the data: ZW AI N. Miyake KMN N. Matsumoto GN. Contributed reagents/materials/analysis tools: AA MAA OK TC GL BI AD CFR EM JW ES GG IK MN SS GN SI. Wrote the paper: ZW AI N. Miyake KMN GN SI.