Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies
波托基-沙弗综合征区域的PHF21A基因易位破坏与智力障碍和颅面畸形有关。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.05.005
Hyung-Goo Kim ,Hyun-Taek Kim, Natalia T Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E Talkowski, Douglas Ruderfer, Ji-Hyun Lee, Caron Glotzbach, Kyungsoo Ha, Susanne Kjaergaard, Alex V Levin, Bernd F Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H Elsea, Ethylin Wang Jabs, Marcy E MacDonald, David J Harris, Bradley J Quade, Hans-Hilger Ropers, Lisa G Shaffer, Kerstin Kutsche, Lawrence C Layman, Niels Tommerup, Vera M Kalscheuer, Yang Shi, Cynthia C Morton, Cheol-Hee Kim, James F Gusella