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

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...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianlong, Xie, Meihua, Yao, Jianfeng, Fu, Wanyu, Zeng, Shuhong, Jiang, Yuying, Wang, Yuanbai, Xie, Yingjun, Wang, Gaoxiong, Chen, Chunnuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830755/
https://www.ncbi.nlm.nih.gov/pubmed/36624491
http://dx.doi.org/10.1186/s12920-023-01433-x

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