De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
新发 SOX6 变异导致与 ADHD、颅缝早闭和骨软骨瘤相关的神经发育综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.04.015
Dara Tolchin, Jessica P Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julian A Martinez-Agosto, Abdul Haseeb, Marco Angelozzi, G W E Santen, Claudia Ruivenkamp, Saadet Mercimek-Andrews, Christel Depienne, Alma Kuechler, Barbara Mikat, Hermann-Josef Ludecke, Frederic Bilan, Gwenael Le