Associated Papers
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F et al.
Genome Medicine, 2019
De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Schäfgen J et al.
European Journal of Human Genetics : Ejhg, 2016
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C et al.
Journal of Medical Genetics, 2014
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