Article
Sex-dependent association of common variants of microcephaly genes with brain structure.
Proceedings of the National Academy of Sciences of the United States of America - 5 Jan 2010
Rimol Lars M, Agartz Ingrid, Djurovic Srdjan, Brown Andrew A, Roddey J Cooper, Kähler Anna K, Mattingsdal Morten, Athanasiu Lavinia, Joyner Alexander H, Schork Nicholas J, Halgren Eric, Sundet Kjetil, Melle Ingrid, Dale Anders M, Andreassen Ole A
Abstract excerpt
Loss-of-function mutations in the genes associated with primary microcephaly (MCPH) reduce human brain size by about two-thirds, without producing gross abnormalities in brain organization or physiology and leaving other organs largely unaffected [Woods CG, et al. (2005) Am J Hum Genet 76:717-728]. There is also evidence suggesting that MCPH genes have evolved rapidly in primates and humans and have been...
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