4:45 PM - 6:45 PM

[2LBA092] Germline gain-of-function mutation in Braf causes congenital anomalies

〇Shinichi Inoue¹, Mitsuji Moriya^1,2, Sachiko Miyagawa-Tomita³, Yasumi Nakashima⁴, Daiju Oba¹, Tetsuya Niihori¹, Misato Hashi⁵, Hiroshi Ohnishi⁵, Shigeo Kure², Yoichi Matsubara^1,6, Yoko Aoki¹ (1.Dept. of Med. Genetics, Tohoku Univ. Grad. Sch. of Med., 2.Dept. of Pediatrics, Tohoku Univ. Grad. Sch. of Med., 3.Dept. of Veterinary Technology, Yamazaki Gakuen Univ., 4.Dept. of Pediatrics, Seirei Hamamatsu General Hosp., 5.Dept. of Labo. Sciences, Gunma Univ. Grad. Sch. of Heal. Sciences, 6.Nat. Res. Ins. for Child Health Dep.)

RASopathies, BRAF, CFC症候群, 先天性奇形症候群