Article
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
Human genetics - 1 Oct 2016
Basit Sulman, Al-Harbi Khalid M, Alhijji Sabri A M, Albalawi Alia M, Alharby Essa, Eldardear Amr, Samman Mohammed I
Abstract excerpt
Autosomal recessive primary microcephaly (MCPH) is a static neurodevelopmental disorder characterized by congenital small head circumference and non-progressive intellectual disability without additional severe brain malformations. MCPH is a genetically heterogeneous disorder. Sixteen genes (MCPH1-MCPH16) have been discovered so far, mutations thereof lead to autosomal recessive primary microcephaly. In a family,...
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