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Article

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

Human molecular genetics - 20 Dec 2013

Hussain Muhammad S, Baig Shahid M, Neumann Sascha, Peche Vivek S, Szczepanski Sandra, Nürnberg Gudrun, Tariq Muhammad, Jameel Muhammad, Khan Tahir N, Fatima Ambrin, Malik Naveed A, Ahmad Ilyas, Altmüller Janine, Frommolt Peter, Thiele Holger, Höhne Wolfgang, Yigit Gökhan, Wollnik Bernd, Neubauer Bernd A, Nürnberg Peter, Noegel Angelika A

Abstract excerpt

Autosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference, reduction in the size of the cerebral cortex with otherwise grossly normal brain structure and variable intellectual disability. MCPH is caused by mutations of 11 different genes which code for proteins implicated in cell division and cell cycle regulation. We studied a consanguineous eight-generation family from...

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Share to Centrosome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23918663
DOI: 10.1093/hmg/ddt374

Genes

CDK6

Variants

Provenance

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