A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
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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… read more here.
Keywords: novo mutation; intellectual disability; gene; pak3 gene ... See more keywords