[P1] 遺伝・先天異常

[P1-13] A 19-year-old patient diagnosed as pseudo-TORCH syndrome was revealed to have schizencephaly caused by a COL4A1 variant.

^○Wataru Anzai¹, Nodoka Hinokuma¹, Tatsuya Suitou¹, Kozue Kobayashi¹, Kaori Yamoto², Mitsuko Nakashima², Hirotomo Saitsu², Mitsuhiro Kato^1,3 (1.Department of Pediatrics, Showa University, Tokyo, Japan, 2.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 3.Epilepsy Medical Center, Showa University, Tokyo, Japan)