De novo truncating variant in the FBRSL1 gene caused neurodevelopmental disorders, epilepsy, congenital heart disease, and facial dysmorphism

作者：Dan Xu, Xiaoli Zhang, Peng-Yu Wang, Man-Man Chu, Jiayang Xie, Meng‐Yue Wang, Xiaoli Li, Yunfei Xu, Jin Liu, Qian-Ru Wen, Yang Fang, Jinshuang Gao, Falin Xu, Sheng Luo · 发表于：Experimental Neurology · 年份：2025 · DOI：10.1016/j.expneurol.2025.115549 · 被引用次数：3 · 研究领域：Genomics and Rare Diseases、Genomic variations and chromosomal abnormalities、Hereditary Neurological Disorders