[PDF][PDF] Mutation in CEP135 causing primary microcephaly and subcortical heterotopia
D Bamborschke, HS Daimagüler, A Hahn… - American Journal of …, 2020 - researchgate.net
D Bamborschke, HS Daimagüler, A Hahn, MS Hussain, P Nürnberg, S Cirak
American Journal of Medical Genetics Part A, 2020•researchgate.netTo the Editor Autosomal recessive primary microcephaly (MCPH) is characterized by
congenital microcephaly (> 2–3 standard deviations [SD] below the mean for age and
gender) and intellectual disability without additional syndromic features (Alcantara &
O'Driscoll, 2014). Up to now, 18 genes have been linked to MCPH, all of them involved in
the neurogenesis of radial glia cells as the primary progenitor cells of the developing
cerebral cortex (Jayaraman, Bae, & Walsh, 2018). Most of these genes encode centrosomal …
congenital microcephaly (> 2–3 standard deviations [SD] below the mean for age and
gender) and intellectual disability without additional syndromic features (Alcantara &
O'Driscoll, 2014). Up to now, 18 genes have been linked to MCPH, all of them involved in
the neurogenesis of radial glia cells as the primary progenitor cells of the developing
cerebral cortex (Jayaraman, Bae, & Walsh, 2018). Most of these genes encode centrosomal …
To the Editor Autosomal recessive primary microcephaly (MCPH) is characterized by congenital microcephaly (> 2–3 standard deviations [SD] below the mean for age and gender) and intellectual disability without additional syndromic features (Alcantara & O'Driscoll, 2014). Up to now, 18 genes have been linked to MCPH, all of them involved in the neurogenesis of radial glia cells as the primary progenitor cells of the developing cerebral cortex (Jayaraman, Bae, & Walsh, 2018). Most of these genes encode centrosomal proteins involved in centriole biogenesis
researchgate.net