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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2012
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On-line přístup: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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