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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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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: DiStasio, Andrew, Driver, Ashley, Sund, Kristen, Donlin, Milene, Muraleedharan, Ranjith M, Pooya, Shabnam, Kline-Fath, Beth, Kaufman, Kenneth M, Prows, Cynthia A, Schorry, Elizabeth, Dasgupta, Biplab, Stottmann, Rolf W
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2017
Matèries:
Accés en línia: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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