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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2017
Pynciau:
Articles
Mynediad Ar-lein: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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