P2-8: Bone & minerals

[P2-8-16] A novel mutation in COL2A1 gene in patient with Stickler syndrome type 1: a case report

^○Yousuke Higuchi^1,2, Kosei Hasegawa², Miho Yamashita^2,3, Hiroyuki Tanaka⁴, Hirokazu Tsukahara¹ (1.Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 2.Department of Pediatrics, Okayama University Hospital, 3.Faculty of Human Life Sciences, Notre Dame Seishin University, 4.Department of Pediatrics, Okayama Saiseikai General Hospital)