[O-22] Care for intractable diseases and others1

[O-22-1] Study of perlecan for the classification of Schwartz-Jampel syndrome and Dyssegmental dysplasia

Yuri Yamashita¹, Takahiro Yamada³, Ohsuke Migita⁴, Satoshi Ohnishi⁵, Hirofumi Ohashi⁶, Risa Nonaka², Kinji Ohno⁷, Gen Nishimura⁸, Shiro Ikegawa⁸, Nobutaka Hattori¹, Eri Hirasawa¹ (1.Department of Neurology, Juntendo University School of Medicine, 2.Department of Diagnosis, Prevention and Treatment Dementia, Graduate School of Medicine, Juntendo University, 3.Clinical Genetics Unit, Kyoto University Hospital, 4.Department of Pediatrics, St. Marianna University School of Medicine, 5.Department of Neonatology, Osaka City General Hospital, 6.Division of Genetics, Saitama Children's Medical Center, 7.Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, 8.Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences)