Article
A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus.
The journal of gene medicine - 1 Jul 2020
Guo Dewei, Shi Yuting, Jian Wenyan, Fu Yimei, Yang Hui, Guo Manhui, Yong Wenjing, Chen Gang, Deng Huan, Qin Yan, Liao Weihua, Yao Ruojin
Abstract excerpt
BACKGROUND: Congenital hydrocephalus is a descriptive diagnosis of symptoms, that are present for numerous reasons, including chromosomal disorders, genetic mutations, intrauterine infection and hemorrhage, amongst other factors. Mutation of L1CAM gene is the most frequent cause of congenital hydrocephalus, contributing to approximately 30% of X-linked congenital hydrocephalus. METHODS: In the present study, we...
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