Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Mal...
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Contents
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 may also contribute, particularly in the presence...
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Full title
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1
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TN_cdi_plos_journals_2525626281
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2525626281
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0251289
