Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome
单亲二体性解释了在携带额外小的 inv dup(15) 染色体的患者中发生的 Angelman 综合征或 Prader-Willi 综合征。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.30.9.756
Robinson, W P; Wagstaff, J; Bernasconi, F; Baccichetti, C; Artifoni, L; Franzoni, E; Suslak, L; Shih, L Y; Aviv, H; Schinzel, A A