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BMC Medical Genomics
Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a smaller but architecturally normal brain; the cerebral cortex exhibits a significant decrease in size. MCPH is a neurogenic mitotic disorder, though affected patients demonstrate normal neuronal migration, neuronal apoptosis and neural function. Twelve MCPH loci (MCPH1-MCPH12) have beendoi:10.1186/1755-8794-8-s1-s4 pmid:25951892 pmcid:PMC4315316 fatcat:zlhvh4qssfh73cgjr7rqclwwey