Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
剪接因子PUF60的显性变异会导致一种可识别的综合征，其特征为智力障碍、心脏缺陷和身材矮小
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2016.133
El Chehadeh, Salima; Kerstjens-Frederikse, Wilhelmina S; Thevenon, Julien; Kuentz, Paul; Bruel, Ange-Line; Thauvin-Robinet, Christel; Bensignor, Candace; Dollfus, Hélène; Laugel, Vincent; Rivière, Jean-Baptiste; Duffourd, Yannis; Bonnet, Caroline; Robert, Matthieu P; Isaiko, Rodica; Straub, Morgane; Creuzot-Garcher, Catherine; Calvas, Patrick; Chassaing, Nicolas; Loeys, Bart; Reyniers, Edwin; Vandeweyer, Geert; Kooy, Frank; Hančárová, Miroslava; Havlovicová, Marketa; Prchalová, Darina; Sedláček, Zdenek; Gilissen, Christian; Pfundt, Rolph; Wassink-Ruiter, Jolien S Klein; Faivre, Laurence
