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Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
Authors:Hae Ryung Chang  Sung Yoon Cho  Jae Hoon Lee  Eunkyung Lee  Jieun Seo  Hye Ran Lee  Denise P Cavalcanti  Outi Mäkitie  Helena Valta  Katta M Girisha  Chung Lee  Kausthubham Neethukrishna  Gandham S Bhavani  Anju Shukla  Sheela Nampoothiri  Shubha R Phadke  Mi Jung Park  Shiro Ikegawa  Tae-Joon Cho
Institution:1. Department of Biological Sciences, Sookmyung Women’s University, Seoul 04310, Republic of Korea;2. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea;3. Department of Biochemistry, Yonsei University, Seoul 03722, Republic of Korea;4. Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Republic of Korea;5. Department of Orthopaedic Surgery, Seoul National University College of Medicine, Seoul 03080, Republic of Korea;6. Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo 13083-887, Brazil;7. Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland;8. Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka 576104, India;9. Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Republic of Korea;10. Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, Kerala 682041, India;11. Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India;12. Department of Pediatrics, Inje University Sanggye Paik Hospital, Seoul 01757, Republic of Korea;13. Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan;14. McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, People’s Republic of China;15. Institute of Cancer and Genomics Sciences, University of Birmingham, Birmingham, West Midlands B15 2TT, UK;16. Center for Genomic Integrity, Institute for Basic Science, Ulsan National Institute of Science and Technology, Ulsan 44919, Republic of Korea;17. Department of Bio and Brain Engineering, Korean Advanced Institute of Science and Technology, Daejeon 34141, Republic of Korea;18. Department of Radiology, Woorisoa Children’s Hospital, Seoul 08291, Republic of Korea
Abstract:
Keywords:SPONASTRIME dysplasia  skeletal dysplasia  TONSL  DNA replication  DNA repair  short stature  rare genetic diseases  whole-exome sequencing
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