A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Autosomal-recessive primary microcephaly (MCPH) is a rare congenital disorder characterized by intellectual disability, reduced brain and head size, but usually without defects in cerebral cortical architecture, and other syndromic abnormalities. MCPH is heterogeneous. The underlying genes of the se...

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Autori principali: Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Neumann, Sascha, Nürnberg, Gudrun, Farooq, Muhammad, Ahmad, Ilyas, Alef, Thomas, Hennies, Hans Christian, Technau, Martin, Altmüller, Janine, Frommolt, Peter, Thiele, Holger, Noegel, Angelika Anna, Nürnberg, Peter
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376485/
https://ncbi.nlm.nih.gov/pubmed/22521416
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.03.016
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