Copb2 Is Essential For Embryogenesis And Hypomorphic Mutations Cause Human Microcephaly
Andrew DiStasio, Ashley M. Driver, Kristen Lipscomb Sund, Milene Donlin, Ranjithmenon Muraleedharan, Shabnam Pooya, Beth M. Kline‐Fath, Kenneth M. Kaufman, Cynthia A. Prows, Elizabeth K. Schorry, Biplab Dasgupta, Rolf W. Stottmann
The paper identifies COPB2 mutations as a cause of human microcephaly and shows that Copb2 is essential for embryogenesis and corticogenesis in mice.
Human Molecular Genetics · Sep 18, 2017Peer-reviewedGenetics