Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis
普拉德-威利综合征和安格曼综合征中散发性印记缺陷:对印记转换模型、遗传咨询和产前诊断的启示
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1086/301935
Buiting, K; Dittrich, B; Gross, S; Lich, C; Färber, C; Buchholz, T; Smith, E; Reis, A; Bürger, J; Nöthen, M M; Barth-Witte, U; Janssen, B; Abeliovich, D; Lerer, I; van den Ouweland, A M; Halley, D J; Schrander-Stumpel, C; Smeets, H; Meinecke, P; Malcolm, S; Gardner, A; Lalande, M; Nicholls, R D; Friend, K; Schulze, A; Matthijs, G; Kokkonen, H; Hilbert, P; Van Maldergem, L; Glover, G; Carbonell, P; Willems, P; Gillessen-Kaesbach, G; Horsthemke, B