A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

基因组拷贝数变异分析表明，MBD5 和 HNRNPU 基因与中国婴儿痉挛症患儿相关，并扩展了 2q23.1 缺失的临床谱。