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A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins

Developmental BiologyMendelian DisorderGenetic DisorderMedicineGeneticsFragile X SpectrumGenetic MechanismMolecular GeneticsX-linked Pak3 GeneDisease Gene IdentificationMonozygotic TwinsFragile X PremutationDevelopmental Delay