[O4] Hereditary disorder/Chromosomal aberration

[O-021] Truncating mutations in MAGEL2 cause Schaaf—Yang syndrome through toxic effects in fetal development

Yutaka Negishi¹, DAISUKE IEDA¹, YUJI NAKAMURA¹, IKUMI HORI¹, AYAKO HATTORI¹, YASUYUKI NOZAKI², HIROFUMI KOMAKI³, JUN TOHYAMA⁴, KEISUKE NAGASAKI⁵, HIROKO TADA⁶, HISASHI OISHI⁷, SHINJI SAITOH¹ (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate Sc hool of Medical Sciences, Nagoya, Japan, 2.Department of Pediatrics, Jichi Medical University , Tochigi, Japan, 3.Department of Child Neurology , National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Tokyo , Japan, 4.Department of Child Neurology Nishi-Niigata Chuo National Hospital Niigata, Japan)