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

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...

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Detalhes bibliográficos

Principais autores:	Jianlong Zhuang, Meihua Xie, Jianfeng Yao, Wanyu Fu, Shuhong Zeng, Yuying Jiang, Yuanbai Wang, Yingjun Xie, Gaoxiong Wang, Chunnuan Chen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2023-01-01
coleção:	BMC Medical Genomics
Assuntos:	1q44 microdeletion Chromosomal microarray analysis Whole exome sequencing Developmental delay Seizures Intellectual disability
Acesso em linha:	https://doi.org/10.1186/s12920-023-01433-x
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