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Article

Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.

Annals of clinical and translational neurology - 1 Jun 2024

Chen Pin-Shiuan, Chen Ying-Fa, Chiu Jian-Ying, Wu Meng-Chen, Tai Chun-Hwei, Chang Yung-Yee, Lan Min-Yu, Lee Ni-Chung, Lin Chin-Hsien

Abstract excerpt

OBJECTIVE: IRF2BPL mutation has been associated with a rare neurodevelopmental disorder with abnormal movements, including dystonia. However, the role of IRF2BPL in dystonia remains elusive. We aimed to investigate IRF2BPL mutations in a Taiwanese dystonia cohort. METHODS: A total of 300 unrelated patients with molecularly unassigned isolated (n = 256) or combined dystonia (n = 44) were enrolled between January...

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PMID: 38650104
DOI: 10.1002/acn3.52072
PMCID: PMC11187836

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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