Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates

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...

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Veröffentlicht in:	PloS one 2013-04, Vol.8 (4), p.e61521
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Arnold-Chiari Malformation - genetics Biology Brain Cerebellum Chromosome Segregation - genetics Connective tissues Disease susceptibility Etiology Female Genes Genetic aspects Genetic Association Studies Genetic disorders Genetic Linkage Genetic Predisposition to Disease Genome, Human - genetics Genomes Genomics Genotyping Techniques Growth Differentiation Factor 3 - genetics Growth Differentiation Factor 6 - genetics Health aspects Heterogeneity Humans Klippel-Feil syndrome Klippel-Feil Syndrome - genetics Linkage analysis Lod Score Male Medicine Missense mutation Molecular Sequence Data Morbidity Mutation Mutation, Missense - genetics Neurological disorders NMR Nuclear magnetic resonance Patients Pedigree Sequence Analysis, DNA Spinal cord Studies Surgery Tumors
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