Should testing for mosaic genome-wide paternal uniparental disomy in Beckwith-Wiedemann spectrum (BWSp) be implemented in diagnostic testing?
是否应在诊断检测中实施贝克威思-威德曼综合征（BWSp）嵌合基因组父系单亲二体性检测？
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01354-4
Maas, Saskia M; Krzyzewska, Izabela M; Lombardi, Maria P R; Mannens, Marcel M A; Vos, Niels; Bliek, Jet
