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

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.

Source: BMC Medical Genetics - February 12, 2020 Category: Genetics & Stem Cells Authors: Yanyan Qian, Bingbing Wu, Yulan Lu, Wenhao Zhou, Sujuan Wang and Huijun Wang Tags: Case report Source Type: research