Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior
PUS7基因变异会导致智力障碍，并伴有语言发育迟缓、小头畸形、身材矮小和攻击性行为。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.10.026
de Brouwer, Arjan P M; Abou Jamra, Rami; Körtel, Nadine; Soyris, Clara; Polla, Daniel L; Safra, Modi; Zisso, Avia; Powell, Christopher A; Rebelo-Guiomar, Pedro; Dinges, Nadja; Morin, Violeta; Stock, Michael; Hussain, Mureed; Shahzad, Mohsin; Riazuddin, Saima; Ahmed, Zubair M; Pfundt, Rolph; Schwarz, Franziska; de Boer, Lonneke; Reis, André; Grozeva, Detilina; Raymond, F Lucy; Riazuddin, Sheikh; Koolen, David A; Minczuk, Michal; Roignant, Jean-Yves; van Bokhoven, Hans; Schwartz, Schraga
