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Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.

Yanyan QianBingbing WuYulan LuWenhao ZhouSujuan WangHuijun Wang
Published 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.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • copy number
  • genome wide
  • transcription factor