Novel <i>COL5A1</i> variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome
We describe the genotypic and phenotypic spectrum of the classical subtype of EDS by identifying 6 novel COL5A1 variants in conjunction with detailed clinical histories that included long-term follow-up information in 7 dogs.
Authors
- Jared A. Jaffey (ORCID: https://orcid.org/0000-0002-0270-4728)
- Garrett Bullock (ORCID: https://orcid.org/0000-0002-9231-8758)
- Erika Sox
- Eric T. Hostnik (ORCID: https://orcid.org/0000-0002-7651-4775)
- Martin L. Katz (ORCID: https://orcid.org/0000-0002-2582-9187)
- Leah A. Cohn (ORCID: https://orcid.org/0000-0002-7785-2696)
- Gary S. Johnson (ORCID: https://orcid.org/0000-0003-2225-3204)
- Erin Matero
- Kyle D. Hutcheson
- Karen S. Hoffmann
Institutions
- Midwestern University (US)
- Mater Health Services (AU)
- Missouri College (US)
- University of Missouri Health System (US)
- Cincinnati Eye Institute (US)
- Spring Techno (Germany) (DE)
- Nonlinear Control Strategies (United States) (US)
- University of Veterinary Medicine (HU)
- The Ohio State University (US)
- University of Missouri (US)
Publication Details
- Journal
- Journal of Veterinary Internal Medicine
- Published
- 2024-08-23
- DOI
- https://doi.org/10.1111/jvim.17180
- Citations
- 2
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 1.10