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

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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Main Authors: Aintzane Urbizu, Melanie E Garrett, Karen Soldano, Oliver Drechsel, Dorothy Loth, Anna Marcé-Grau, Olga Mestres I Soler, Maria A Poca, Stephan Ossowski, Alfons Macaya, Francis Loth, Rick Labuda, Allison Ashley-Koch
Format: article
Language:EN
Published: Public Library of Science (PLoS) 2021
Subjects:
Medicine
R
Science
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Online Access:https://doaj.org/article/efd9c6bc9ff84260b198d19802574ddc
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https://doaj.org/article/efd9c6bc9ff84260b198d19802574ddc

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