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

• Auteurs principaux: Jianlong Zhuang (Auteur), Meihua Xie (Auteur), Jianfeng Yao (Auteur), Wanyu Fu (Auteur), Shuhong Zeng (Auteur), Yuying Jiang (Auteur), Yuanbai Wang (Auteur), Yingjun Xie (Auteur), Gaoxiong Wang (Auteur), Chunnuan Chen (Auteur)
• Format: Livre
• Publié: BMC, 2023-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...