EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
EXTL3 突变导致骨骼发育不良、免疫缺陷和发育迟缓
期刊:Journal of Experimental Medicine
影响因子:12.6
doi:10.1084/jem.20161525
Stefano Volpi, Yasuhiro Yamazaki, Patrick M Brauer, Ellen van Rooijen, Atsuko Hayashida, Anne Slavotinek, Hye Sun Kuehn, Maja Di Rocco, Carlo Rivolta, Ileana Bortolomai, Likun Du, Kerstin Felgentreff, Lisa Ott de Bruin, Kazutaka Hayashida, George Freedman, Genni Enza Marcovecchio, Kelly Capuder, Pri
