Article
Haploinsufficiency of the murine polycomb gene Suz12 results in diverse malformations of the brain and neural tube.
Disease models & mechanisms - 1 Jan 2000
Miró Xavier, Zhou Xunlei, Boretius Susann, Michaelis Thomas, Kubisch Christian, Alvarez-Bolado Gonzalo, Gruss Peter
Abstract excerpt
Polycomb proteins are epigenetic regulators of gene expression. Human central nervous system (CNS) malformations are congenital defects of the brain and spinal cord. One example of a human CNS malformation is Chiari malformation (CM), which presents as abnormal brainstem growth and cerebellar herniation, sometimes accompanied by spina bifida and cortical defects; it can occur in families. Clinically, CM ranges...
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