Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders

ConclusionOur study shows the pathogenicity of missense and inframeshift variants of NDD ‐related FOX genes, which is important for clinical diagnosis and genetic counseling. Functional analysis is needed to determine the pathogenicity of the variants with uncertain clinical significance.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.789?af=R

Source: Molecular Genetics & Genomic Medicine - June 13, 2019 Category: Genetics & Stem Cells Authors: Lin Han, Meilin Chen, Yazhe Wang, Huidan Wu, Yingting Quan, Ting Bai, Kuokuo Li, Guiqin Duan, Yan Gao, Zhengmao Hu, Kun Xia, Hui Guo Tags: ORIGINAL ARTICLE Source Type: research