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Mami Fukuma1, Masaki Takagi2, Tomoyuki Shimazu1, Hoseki Imamura1, Hiroko Yagi3,4, Gen Nishimura5, and Tomonobu Hasegawa2 1 Department of Pediatrics, Kumamoto Saishunso National Hospital, Kumamoto, Japan 2 Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 3 Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 4 Department of Pediatrics, Hirosaki University Graduate School of Medicine, Aomori, Japan 5 Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan

A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in <i>TRAPPC2</i>