Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
对大型儿童马凡综合征队列进行分子特征分析,并研究遗传变异在表型变异和治疗反应中的作用
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2021.12.015
Meester, Josephina A N; Peeters, Silke; Van Den Heuvel, Lotte; Vandeweyer, Geert; Fransen, Erik; Cappella, Elizabeth; Dietz, Harry C; Forbus, Geoffrey; Gelb, Bruce D; Goldmuntz, Elizabeth; Hoskoppal, Arvind; Landstrom, Andrew P; Lee, Teresa; Mital, Seema; Morris, Shaine; Olson, Aaron K; Renard, Marjolijn; Roden, Dan M; Singh, Michael N; Selamet Tierney, Elif Seda; Tretter, Justin T; Van Driest, Sara L; Willing, Marcia; Verstraeten, Aline; Van Laer, Lut; Lacro, Ronald V; Loeys, Bart L