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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Bibliografiske detaljer
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2012
Fag:
Report
Online adgang: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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