[3P-929] A novel RNF213 gene de novo variant is involved in systemic vasculopathy.

^○Ayako Kashimada¹, Tomoko Mizuno¹, Tomohiro Udagawa¹, Eriko Tanaka², Kenjirou Kosaki³, Masatoshi Takagi¹ (1.Dept. of Dev BIol., Univ. of Tokyo Med Den., 2.Dept.of Ped., Univ. of Kyorin., 3.Cent. for Med Gen., Univ. of Keio.)