POLR2A

Publications

Evans D et al. Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant. Genes 2022;13(3):470. https://doi.org/10.3390/genes13030470 PMID: 35328024.

Haijes HA et al. De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. Amr J Hum Gen 2019;104:283-301. https://doi.org/10.1016/j.ajhg.2019.06.016 PMID: 31353023.

Hansen AW et al. Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation. HGG Adv 2021;2(1):100014. https://doi.org/10.1016/j.xhgg.2020.100014 PMID: 33665635.