Article
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Nature genetics - 1 Nov 2010
Yu Timothy W, Mochida Ganeshwaran H, Tischfield David J, Sgaier Sema K, Flores-Sarnat Laura, Sergi Consolato M, Topçu Meral, McDonald Marie T, Barry Brenda J, Felie Jillian M, Sunu Christine, Dobyns William B, Folkerth Rebecca D, Barkovich A James, Walsh Christopher A
Abstract excerpt
Genes associated with human microcephaly, a condition characterized by a small brain, include critical regulators of proliferation, cell fate and DNA repair. We describe a syndrome of congenital microcephaly and diverse defects in cerebral cortical architecture. Genome-wide linkage analysis in tw...
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