A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report

por Hu, Qian, Mai, Jingqun, Xiang, Qinqin, Zhou, Bin, Liu, Shanling, Wang, Jing
Publicado 2022

Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7

por Zhou, Cong, Zhu, Hongmei, Xiang, Qinqin, Mai, Jingqun, Wang, Xihan, Wang, Jing, Liu, Shanling
Publicado 2023