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Article

Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome.

Journal of veterinary internal medicine - 1 Jan 2000

Bullock Garrett, Jaffey Jared A, Cohn Leah A, Sox Erika, Hostnik Eric T, Hutcheson Kyle D, Matero Erin, Hoffmann Karen S, Johnson Gary S, Katz Martin L

Abstract excerpt

BACKGROUND: Human patients with Ehlers-Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants and phenotypes. The classical form of EDS, primarily caused by variants in COL5A1 or COL5A2, is a very common subtype in people but is poorly characterized in dogs. OBJECTIVE: Describe likely causal COL5A1 variants in dogs with classical EDS, summarize clinical histories, discuss...

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Identifiers

PMID: 39175162
DOI: 10.1111/jvim.17180
PMCID: PMC11423452

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