Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation

@inproceedings{Issa2013ClinicalAC,
  title={Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation},
  author={Lina Issa and Katrin Mueller and Katja Seufert and Nadine Kraemer and Henning Rosenkotter and Olaf Ninnemann and Michael Buob and Angela M Kaindl and Deborah J. Morris-Rosendahl},
  booktitle={Orphanet journal of rare diseases},
  year={2013}
}
BACKGROUND Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simplified cortical gyration and intellectual disability. Homozygous mutations in the Cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 are the cause of MCPH3. Despite considerable interest in MCPH as a model disorder for brain development, the… CONTINUE READING
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