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Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.01.004
Abstract: Pathogenic variants in theP21 protein (Cdc42/Rac)-activated kinase 3gene (PAK3) lead to a rare non syndromic X-linked intellectual disability. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1…
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Keywords:
novo mutation;
intellectual disability;
gene;
pak3 gene ... See more keywords