Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
预测会导致单倍体功能不全的BMP2单等位基因变异会引起与20p12缺失相关的颅面、骨骼和心脏特征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.10.006
Tan, Tiong Yang; Gonzaga-Jauregui, Claudia; Bhoj, Elizabeth J; Strauss, Kevin A; Brigatti, Karlla; Puffenberger, Erik; Li, Dong; Xie, LiQin; Das, Nanditha; Skubas, Ioanna; Deckelbaum, Ron A; Hughes, Virginia; Brydges, Susannah; Hatsell, Sarah; Siao, Chia-Jen; Dominguez, Melissa G; Economides, Aris; Overton, John D; Mayne, Valerie; Simm, Peter J; Jones, Bryn O; Eggers, Stefanie; Le Guyader, Gwenaël; Pelluard, Fanny; Haack, Tobias B; Sturm, Marc; Riess, Angelika; Waldmueller, Stephan; Hofbeck, Michael; Steindl, Katharina; Joset, Pascal; Rauch, Anita; Hakonarson, Hakon; Baker, Naomi L; Farlie, Peter G
