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Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly
Primary microcephaly is a congenital brain malformation characterized by a head circumference less than three standard deviations below the mean for age and sex and results in moderate to severe mental deficiencies and decreased lifespan. We recently studied two children with primary microcephaly in...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5886270/ https://ncbi.nlm.nih.gov/pubmed/29036432 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx362 |
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