Article
X-linked intellectual disability gene CASK regulates postnatal brain growth in a non-cell autonomous manner.
Acta neuropathologica communications - 31 Mar 2016
Srivastava Sarika, McMillan Ryan, Willis Jeffery, Clark Helen, Chavan Vrushali, Liang Chen, Zhang Haiyan, Hulver Matthew, Mukherjee Konark
Abstract excerpt
The phenotypic spectrum among girls with heterozygous mutations in the X-linked intellectual disability (XLID) gene CASK (calcium/calmodulin-dependent serine protein kinase) includes postnatal microcephaly, ponto-cerebellar hypoplasia, seizures, optic nerve hypoplasia, growth retardation and hypotonia. Although CASK knockout mice were previously reported to exhibit perinatal lethality and a 3-fold increased...
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