Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients
通过液滴数字聚合酶链式反应对一例严重的PIK3CA相关过度生长病例进行尸检表征,并报告22例患者的PIK3CA测序结果。
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.40487
Piacitelli, Andrew M; Jensen, Dana M; Brandling-Bennett, Heather; Gray, Megan Mariner; Batra, Maneesh; Gust, Juliane; Thaker, Ameet; Paschal, Catherine; Tsuchiya, Karen; Pritchard, Colin C; Perkins, Jonathan; Mirzaa, Ghayda M; Bennett, James T