A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
AMOTL1基因中的一个突变热点定义了一种新的综合征,其特征为唇腭裂、心脏畸形和身材高大
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63130
Strong, Alanna; Rao, Soumya; von Hardenberg, Sandra; Li, Dong; Cox, Liza L; Lee, Paul C; Zhang, Li Q; Awotoye, Waheed; Diamond, Tamir; Gold, Jessica; Gooch, Catherine; Gowans, Lord Jephthah Joojo; Hakonarson, Hakon; Hing, Anne; Loomes, Kathleen; Martin, Nicole; Marazita, Mary L; Mononen, Tarja; Piccoli, David; Pfundt, Rolph; Raskin, Salmo; Scherer, Stephen W; Sobriera, Nara; Vaccaro, Courtney; Wang, Xiang; Watson, Deborah; Weksberg, Rosanna; Bhoj, Elizabeth; Murray, Jeffrey C; Lidral, Andrew C; Butali, Azeez; Buckley, Michael F; Roscioli, Tony; Koolen, David A; Seaver, Laurie H; Prows, Cynthia A; Stottmann, Rolf W; Cox, Timothy C