Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and ce... The CASK gene (Xp11.4) is highly expressed in the mammalian nervous system and plays several roles in neural development and synaptic function....
microcephaly, intrauterine growth retardation, congenital heart disease, and neurocognitive impairment in the offspring of women with PKU who have uncontrolled Phe lev- els during pregnancy.15,16 As early as 1967, it was noted that exposure to elevated blood Phe was associated with declining ...