Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report

The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal r...

Source: BMC Medical Genetics - March 14, 2020 Category: Genetics & Stem Cells Authors: Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang and Hai-Feng Li Tags: Case report Source Type: research