1 | CDK6, CENPE, MCPH10, MCPH11, MCPH12, MCPH13, PHC1, ZNF335 |
What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH). | |
Morris-Rosendahl DJ, Kaindl AM. | |
Mol Cell Probes 29(5):271-81. doi: 10.1016/j.mcp.2015.05.015. Epub 2015 Jun 4. Review. 2015 | |
2 | CDK6, MCPH12 |
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. | |
Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA. | |
Hum Mol Genet 22(25):5199-214. doi: 10.1093/hmg/ddt374. Epub 2013 Aug 4. 2013 | |