Article
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
Annals of neurology - 1 Oct 2017
Moawia Abubakar, Shaheen Ranad, Rasool Sajida, Waseem Syeda Seema, Ewida Nour, Budde Birgit, Kawalia Amit, Motameny Susanne, Khan Kamal, Fatima Ambrin, Jameel Muhammad, Ullah Farid, Akram Talia, Ali Zafar, Abdullah Uzma, Irshad Saba, Höhne Wolfgang, Noegel Angelika Anna, Al-Owain Mohammed, Hörtnagel Konstanze, Stöbe Petra, Baig Shahid Mahmood, Nürnberg Peter, Alkuraya Fowzan Sami, Hahn Andreas, Hussain Muhammad Sajid
Abstract excerpt
OBJECTIVE: Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (citron rho-interacting kinase)-a component of the central spindle matrix-were added. We aimed at identifying novel MCPH-associated genes and...
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