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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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631233/
https://www.ncbi.nlm.nih.gov/pubmed/23620759
http://dx.doi.org/10.1371/journal.pone.0061521