Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
杂合子功能缺失型SMC3变异与不同的生长发育特征相关。
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2024.100273
Ansari, Morad; Faour, Kamli N W; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M; Denhoff, Erica R; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M; Firth, Helen; Breman, Amy M; Bijlsma, Emilia K; Iwata-Otsubo, Aiko; de Ravel, Thomy J L; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G; Haack, Tobias B; Korenke, G Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M; Low, Karen J; Place, Emily; Humberson, Jennifer; Napier, Melanie P; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald F; O'Donnell-Luria, Anne; Talkowski, Michael E; FitzPatrick, David R; Boone, Philip M