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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v: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
Jezik:Inglês
Izdano: Oxford University Press 2017
Teme:
Articles
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki