山梨大学医学部小児科学教室

症例報告：Urakawa T, Ozawa J, Tanaka M, Narusawa H, Matsuoka K, Fukami M, Nagasaki K, Kagami M. Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR. Eur J Med Genet. 2023 Jan;66(1):104671. doi: 10.1016/j.ejmg.2022.104671. PMID: 36402267