De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
新发 SOX4 变异导致与轻度畸形相关的神经发育疾病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.12.014
Ash Zawerton, Baojin Yao, J Paige Yeager, Tommaso Pippucci, Abdul Haseeb, Joshua D Smith, Lisa Wischmann, Susanne J Kühl, John C S Dean, Daniela T Pilz, Susan E Holder; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Alisdair McNeill, Claudio Grazia
