Article
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
American journal of human genetics - 4 Aug 2016
Li Hongda, Bielas Stephanie L, Zaki Maha S, Ismail Samira, Farfara Dorit, Um Kyongmi, Rosti Rasim O, Scott Eric C, Tu Shu, Chi Neil C, Gabriel Stacey, Erson-Omay Emine Z, Ercan-Sencicek A Gulhan, Yasuno Katsuhito, Çağlayan Ahmet Okay, Kaymakçalan Hande, Ekici Barış, Bilguvar Kaya, Gunel Murat, Gleeson Joseph G
Abstract excerpt
Cell division terminates with cytokinesis and cellular separation. Autosomal-recessive primary microcephaly (MCPH) is a neurodevelopmental disorder characterized by a reduction in brain and head size at birth in addition to non-progressive intellectual disability. MCPH is genetically heterogeneous, and 16 loci are known to be associated with loss-of-function mutations predominantly affecting...
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