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Novel Alternative Splice Variants of Mouse Cdk5rap2
2015
PLoS ONE
Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disorder characterized by a pronounced reduction of brain volume and intellectual disability. A current model for the microcephaly phenotype invokes a stem cell proliferation and differentiation defect, which has moved the disease into the spotlight of stem cell biology and neurodevelopmental science. Homozygous mutations of the Cyclin-dependent kinase-5 regulatory subunit-associated protein 2 gene CDK5RAP2 are one
doi:10.1371/journal.pone.0136684
pmid:26322982
pmcid:PMC4556188
fatcat:niks6wen5vgplp3k6cavny276y