Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be the most common biologic mechanism leading to CM-1. However, other mechanisms...

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Detalles Bibliográficos
Autores principales: Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Drechsel, Oliver, Loth, Dorothy, Marcé-Grau, Anna, Mestres i Soler, Olga, Poca, Maria A., Ossowski, Stephan, Macaya, Alfons, Loth, Francis, Labuda, Rick, Ashley-Koch, Allison
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8112708/
https://www.ncbi.nlm.nih.gov/pubmed/33974636
http://dx.doi.org/10.1371/journal.pone.0251289

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