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

• Príomhchruthaitheoirí: Jianlong Zhuang (Údar), Meihua Xie (Údar), Jianfeng Yao (Údar), Wanyu Fu (Údar), Shuhong Zeng (Údar), Yuying Jiang (Údar), Yuanbai Wang (Údar), Yingjun Xie (Údar), Gaoxiong Wang (Údar), Chunnuan Chen (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2023-01-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: 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...