Article
Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.
PloS one - 1 Jan 2013
Markunas Christina A, Soldano Karen, Dunlap Kaitlyn, Cope Heidi, Asiimwe Edgar, Stajich Jeffrey, Enterline David, Grant Gerald, Fuchs Herbert, Gregory Simon G, Ashley-Koch Allison E
Abstract excerpt
Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic contribution to disease, no genes have been identified. We therefore conducted the largest whole genome linkage screen to date using 367 individuals from 66 families with at least two...
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