Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.
Yanyan QianBingbing WuYulan LuWenhao ZhouSujuan WangHuijun WangPublished in: BMC medical genetics (2020)
We diagnosed two male siblings with developmental delays as having a PAK3 likely pathogenic variant. This finding expands the list of PAK3 gene mutations associated with neurodevelopmental disorders and provides further details on its clinical features.