Associated Papers
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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