Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.
Pin-Shiuan ChenYing-Fa ChenJian-Ying ChiuMeng-Chen WuChun-Hwei TaiYung-Yee ChangMin-Yu LanHung-Chang LeeChin-Hsien LinPublished in: Annals of clinical and translational neurology (2024)
IRF2BPL mutation is a rare cause of dystonia in our population. Mutations in different domains of IRF2BPL exhibit different phenotypes.