A Frameshift Variant in the SEMA6B Gene Causes Global Developmental Delay and Febrile Seizures
Li Shu1,2,3 • Yuchen Xu4 • Qi Tian1 • Yuanyuan Chen5 • Yaqin Wang6 • Hui Xi1 • Hua Wang1,2 • Neng Xiao7 • Xiao Mao1,2
1 Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha 410008, China
2 National Health Commission Key Laboratory of Birth Defects Research, Prevention and Treatment, Hunan Provincial Maternal and Child Health Care Hospital, Changsha 410008, China
3 School of Life Sciences, Central South University, Changsha 410013, China
4 Department of Neurology, Xiangya Hospital, Changsha 410008, China
5 Center for Reproductive Medicine, Maternal and Child Health Hospital of Hunan Province, Changsha 410008, China
6 Health Management Center, The Third Xiangya Hospital, Central South University, Changsha 410013, China
7 Department of Pediatric Neurology, Chenzhou First People’s Hospital, Chenzhou 423000, China
Abstract
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