Article
Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes-Related Neurological Disorders.
CNS neuroscience & therapeutics - 1 Aug 2026
Chen Shimeng, Yin Fei, He Fang, Zhang Ciliu, Deng Xiaolu, Yang Lifen, Yang Li, Chen Chen, Liu Fangyun, Peng Jing
Abstract excerpt
AIM: To describe the genotypic and phenotypic profile of chromatin remodeling complex (CRC)-related neurological disorders. METHODS: We retrospectively analyzed the clinical characteristics and the genetic spectrum of children with variants in CRC genes. RESULTS: Fifty patients were included. The genotype spectrum involved genes encoding the CHD complex (CHD2, CHD3, CHD4, CHD7, CHD8), the BAF complex (SMARCA2,...
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