Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation

BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a rare neurodevelopmental disease with severe microcephaly at birth due to a pronounced reduction in brain volume and intellectual disability. Biallelic mutations in the WD repeat-containing protein 62 gene WDR62 are the genetic cause of...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Farag, Heba Gamal, Froehler, Sebastian, Oexle, Konrad, Ravindran, Ethiraj, Schindler, Detlev, Staab, Timo, Huebner, Angela, Kraemer, Nadine, Chen, Wei, Kaindl, Angela M
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
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Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4225825/
https://ncbi.nlm.nih.gov/pubmed/24228726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-178
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