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

Abstract 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...

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Main Authors: Yanyan Qian (Author), Bingbing Wu (Author), Yulan Lu (Author), Wenhao Zhou (Author), Sujuan Wang (Author), Huijun Wang (Author)
Format: Book
Published: BMC, 2020-02-01T00:00:00Z.
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3rd Floor Main Library

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