Article
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
American journal of human genetics - 13 May 2011
Bakircioglu Mehmet, Carvalho Ofélia P, Khurshid Maryam, Cox James J, Tuysuz Beyhan, Barak Tanyeri, Yilmaz Saliha, Caglayan Okay, Dincer Alp, Nicholas Adeline K, Quarrell Oliver, Springell Kelly, Karbani Gulshan, Malik Saghira, Gannon Caroline, Sheridan Eamonn, Crosier Moira, Lisgo Steve N, Lindsay Susan, Bilguvar Kaya, Gergely Fanni, Gunel Murat, Woods C Geoffrey
Abstract excerpt
We investigated three families whose offspring had extreme microcephaly at birth and profound mental retardation. Brain scans and postmortem data showed that affected individuals had brains less than 10% of expected size (≤10 standard deviation) and that in addition to a massive reduction in neuron production they displayed partially deficient cortical lamination (microlissencephaly). Other body systems were...
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