A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

• Main Authors: Jianlong Zhuang (Author), Meihua Xie (Author), Jianfeng Yao (Author), Wanyu Fu (Author), Shuhong Zeng (Author), Yuying Jiang (Author), Yuanbai Wang (Author), Yingjun Xie (Author), Gaoxiong Wang (Author), Chunnuan Chen (Author)
• Formato: Livro
• Publicado em: BMC, 2023-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Pathogenic PAK1 variants were described to be causative of neurodevelopmental disorder with macrocephaly, seizures, and speech delay. Herein, we present a de novo PAK1 variant combine with a de novo terminal 1q microdeletion in a Chinese pediatric patient, aiming to provide more...