Article
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.
BMC medical genomics - 9 Jan 2023
Zhuang Jianlong, Xie Meihua, Yao Jianfeng, Fu Wanyu, Zeng Shuhong, Jiang Yuying, Wang Yuanbai, Xie Yingjun, Wang Gaoxiong, Chen Chunnuan
Abstract excerpt
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 insights into the underlying genotype-phenotype relationship. METHODS: Enrolled in this study was a 6-year-old girl with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.