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Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis
Authors:Ekaterina Kuchinskaya  Giedre Grigelioniene  Anna Hammarsjö  Hye-Ran Lee  Lotta Högberg  Gintautas Grigelionis  Ok-Hwa Kim  Gen Nishimura  Tae-Joon Cho
Institution:1. Department of Clinical Pathology and Clinical Genetics, and Department of Clinical and Experimental Medicine, Link?ping University, Link?ping, Sweden
2. Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
3. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
4. Division of Pediatric Orthopaedics, Seoul National University Children’s Hospital, Seoul, Republic of Korea
5. Department of Paediatrics and Department of Clinical and Experimental Medicine, Link?ping University, Norrk?ping, Sweden
6. Department of Radiology, Woorisoa Children’s Hospital, Seoul, Republic of Korea
7. Department of Pediatric Imaging, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan
Abstract:
Keywords:
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