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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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Qian, Yanyan, Wu, Bingbing, Lu, Yulan, Zhou, Wenhao, Wang, Sujuan, Wang, Huijun
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7017536/
https://ncbi.nlm.nih.gov/pubmed/32050918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-0957-x
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