@article {1059766,
	title = {Biallelic mutations in human DCC cause developmental split-brain syndrome},
	journal = {Nat Genet},
	volume = {49},
	number = {4},
	year = {2017},
	month = {2017 Apr},
	pages = {606-612},
	abstract = {Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a new human syndrome in which these commissures are widely disrupted, thus causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon-guidance receptor {\textquoteright}deleted in colorectal carcinoma{\textquoteright} (DCC), which has been implicated in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic loss-of-function human phenotype has not been reported. Structural MRI and diffusion tractography demonstrated broad disorganization of white-matter tracts throughout the human central nervous system (CNS), including loss of all commissural tracts at multiple levels of the neuraxis. Combined with data from animal models, these findings show that DCC is a master regulator of midline crossing and development of white-matter projections throughout the human CNS.},
	issn = {1546-1718},
	doi = {10.1038/ng.3804},
	author = {Jamuar, Saumya S and Schmitz-Abe, Klaus and D{\textquoteright}Gama, Alissa M and Drottar, Marie and Chan, Wai-Man and Peeva, Maya and Servattalab, Sarah and Lam, Anh-Thu N and Delgado, Mauricio R and Clegg, Nancy J and Zayed, Zayed Al and Dogar, Mohammad Asif and Alorainy, Ibrahim A and Jamea, Abdullah Abu and Abu-Amero, Khaled and Griebel, May and Ward, Wendy and Lein, Ed S and Markianos, Kyriacos and Barkovich, A James and Robson, Caroline D and Grant, P Ellen and Bosley, Thomas M and Engle, Elizabeth C and Walsh, Christopher A and Yu, Timothy W}
}
