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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...

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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

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