Mutation in CEP135 causing primary microcephaly and subcortical heterotopia

Am J Med Genet A. 2020 Oct;182(10):2450-2453. doi: 10.1002/ajmg.a.61762. Epub 2020 Jul 9.

Daniel Bamborschke^{1

2}, Hülya-Sevcan Daimagüler^{1

2}, Andreas Hahn³, Muhammad S Hussain^{1

4

5}, Peter Nürnberg^{1

4}, Sebahattin Cirak^{1

2}

¹ Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
² Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
³ Department of Child Neurology, Justus-Liebig-University Giessen, Giessen, Germany.
⁴ Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
⁵ Institute of Biochemistry I, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

No abstract available

Keywords: CEP135; neuronal migration defect; primary microcephaly; subcortical heterotopia.

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