- •Two subjects with novel TCF20 variants in whom dystonia was a leading phenotype.
- •Expand the spectrum of TCF20 neurodevelopmental disease to a dystonia-prominent.
- •To increase awareness of movement disorders contributing to developmental disorders.
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- De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.Genome Med. 2019; 11 (Erratum in: Genome Med. 11 (2019) 16): 12
- Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.Genet. Med. 2019; 21: 2036-2042
- Monogenic variants in dystonia: an exome-wide sequencing study.Lancet Neurol. 2020; 19: 908-918
- De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.Clin. Genet. 2021; 100: 14-28
- Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: a case series.Park. Relat. Disord. 2021; 90: 73-78