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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris,T. Nakayama,78 Authors,T. Yu

2020 · DOI: 10.1038/s41436-021-01114-z
Genetics in Medicine · 56 Citations

TLDR

A likely role of deleterious variation in RFX3, RFX4, and RFX7 in cases of monogenic intellectual disability, ADHD and ASD is established, and these genes are position as potentially critical transcriptional regulators of neurobiological pathways associated with neurodevelopmental disease pathogenesis.