About the Authors

Zheng Wang

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

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

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

Affiliation Department of Advanced Ophthalmic Medicine, Tohoku University Graduate School of Medicine, Sendai, 980–8574, Japan

Kosuke Fujita

Affiliation Department of Retinal Disease Control, Tohoku University Graduate School of Medicine, Sendai, 980–8574, Japan

Toru Nakazawa

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

Affiliation Department of Pediatrics, King Abdulaziz Medical City for National Guard Health Affairs, Riyadh, 22490, Saudi Arabia

Mohammed A. Albalwi

Affiliation Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, 22490, Saudi Arabia

Ok-Hwa Kim

Affiliation Department of Radiology, Woorisoa Children's Hospital, Seoul, 08291, Republic of Korea

Tae-Joon Cho

Affiliation Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea

Gye-Yeon Lim

Affiliation Department of Radiology, St. Mary’s Hospital, The Catholic University, Seoul, 07345, Republic of Korea

Bertrand Isidor

Affiliation CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France

Albert David

Affiliation CHU Nantes, Service de Génétique Médicale and INSERM, UMR-S 957, Nantes, 44093, France

Cecilie F. Rustad

Affiliation Department of Medical Genetics, Section for Clinical Genetics, Oslo University Hospital, Oslo, 0424, Norway

Else Merckoll

Affiliation Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway

Jostein Westvik

Affiliation Department of Radiology, Oslo University Hospital, Oslo, 0424, Norway

Eva-Lena Stattin

Affiliation Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, 90187, Sweden

Giedre Grigelioniene

Affiliation Department of Clinical Genetics and Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, 17176, Sweden

Ikuyo Kou

Affiliation Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108–8639, Japan

Masahiro Nakajima

Affiliation Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108–8639, Japan

Hirohumi Ohashi

Affiliation Division of Medical Genetics, Saitama Children’s Medical Center, Saitama, 339–8551, Japan

Sarah Smithson

Affiliation Department of Clinical Genetics, St. Michaels Hospital, Bristol, BS2 8EG, United Kingdom

Naomichi Matsumoto

Affiliation Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236–0004, Japan

Gen Nishimura

Affiliation Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, 183–8561, Japan

Shiro Ikegawa

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.