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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Udgivet i:Hum Mol Genet
Main Authors: 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
Sprog:Inglês
Udgivet: Oxford University Press 2017
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Articles
Online adgang: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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