Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1
Beckwith-Wiedemann 综合征是由母系遗传的 IGF2/H19 印记控制区 ICR1 中 OCT 结合基序的突变引起的。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2011.166
Poole, Rebecca L; Leith, Donald J; Docherty, Louise E; Shmela, Mansur E; Gicquel, Christine; Splitt, Miranda; Temple, I Karen; Mackay, Deborah J G