Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

BACKGROUND: Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders. CASE PRESENTATION: In this study, we reported on two male siblings, aged 4 and 2 y...

Descripción completa

Detalles Bibliográficos
Autores principales: Qian, Yanyan, Wu, Bingbing, Lu, Yulan, Zhou, Wenhao, Wang, Sujuan, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017536/
https://www.ncbi.nlm.nih.gov/pubmed/32050918
http://dx.doi.org/10.1186/s12881-020-0957-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7017536/
https://www.ncbi.nlm.nih.gov/pubmed/32050918
http://dx.doi.org/10.1186/s12881-020-0957-x

Ejemplares similares