[2P-276] Familial pseudohypoparathyroidism type IB associated with an SVA retrotransposon insertion in the GNAS locus.

^○Masayo Kagami¹, Sayaka Kawashima^1,2, Akiko Yuno³, Shinichiro Sano^1,4, Akie Nakamura^1,5, Keisuke Ishiwata⁶, Tomoyuki Kawasaki⁷, Kazuyoshi Hosomichi⁸, Kazuhiko Nakabayashi⁶, Hidenori Akutsu⁷, Hirotomo Saitsu⁹, Maki Fukami¹, Takeshi Usui^10,11, Tsutomu Ogata^1,9,12 (1.Dept. of Mol. Endo, NCCHD, 2.Dept. of Ped., Tohoku Univ. Grad. Sch. of Med., 3.Dept. of Endo. and Metabo., Kin-ikyo Chuo Hosp., 4.Dept. of Endo. and Metabo., Shizuoka Children’s Hospital, 5.Dept. of Ped., Hokkaido Univ. Sch. of Med., 6.Dept. of Mat. Fetal Bio., NCCHD, 7.Dept. of Repro. Med., NCCHD, 8.Dept. of Bioinfo. and Genom., Grad. Sch. of Advanced Preventive Med. Sci., Kanazawa Univ., 9.Dept. of Biochem., Hamamatsu Univ. Sch. of Med., 10.Res. Support Center, Shizuoka General Hosp., 11.Shizuoka Grad.Univ. of Pub. Health, 12.Dept. of Ped., Hamamatsu Med. Center)