Article
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
American journal of medical genetics. Part A - 1 Aug 2011
Osbun Nathan, Li Jiang, O'Driscoll Mary C, Strominger Zoe, Wakahiro Mari, Rider Eric, Bukshpun Polina, Boland Elena, Spurrell Cailyn H, Schackwitz Wendy, Pennacchio Len A, Dobyns William B, Black Graeme C M, Sherr Elliott H
Abstract excerpt
Agenesis of the corpus callosum (AgCC) is a congenital brain malformation that occurs in approximately 1:1,000-1:6,000 births. Several syndromes associated with AgCC have been traced to single gene mutations; however, the majority of AgCC causes remain unidentified. We investigated a mother and two children who all shared complete AgCC and a chromosomal deletion at 1q42. We fine mapped this deletion and show that...
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