A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

Aritoshi Iida, Kyoko Takano, Eri Takeshita, et al.

日本人X連鎖性知的障害家系の兄弟2人に同定されたPAK3の新規病原性バリアント：症例報告と文献レビュー

• PMID: 31444167