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Minigene assays confirmed that this variant causes aberrant splicing. The patient exhibited an atypical disease progression compared with typical TH\u2010associated DRD cases, presenting with generalized dystonia, episodic hypotonia, Parkinsonism, and oromandibular dyskinesias. These findings, including the first known documented deep intronic <jats:italic>TH<\/jats:italic> variant, expand our understanding of TH\u2010associated DRD's phenotypic and genotypic spectrum, aiding clinical evaluation.<\/jats:p>","DOI":"10.1002\/acn3.70013","type":"journal-article","created":{"date-parts":[[2025,3,27]],"date-time":"2025-03-27T19:02:15Z","timestamp":1743102135000},"page":"1093-1096","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel Phenotypes and Deep Intronic Variant Expand <scp>TH<\/scp>\u2010Associated Dopa\u2010Responsive Dystonia Spectrum"],"prefix":"10.1002","volume":"12","author":[{"given":"Xiaosheng","family":"Zheng","sequence":"first","affiliation":[{"name":"Department of Neurology The Second Affiliated Hospital, Zhejiang University School of Medicine  Hangzhou Zhejiang 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