De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
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Vetrini F, et al.
Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0.
Genome Med. 2019.
PMID: 30819258
Free PMC article.
