山梨大学医学部小児科学教室

症例報告：Yagasaki H, Toda T, Koizumi K, Sugiyama T, Ohyama T, Hoshiai M, Nakane T, Sugita K. A de novo 10.1-Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation. Pediatr Neonatol. 6: S1875-9572(16)30389-8, 2017