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Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility.
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Specificaties
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Algemene informatie
Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. The variant analyzed in this specific test is for a form of EDS caused by a dominant mutation to the gene COL5A1.
Klinische eigenschappen
Affected dogs present clinical symptoms within the first several months of life. Symptoms are primarily weak skin (prone to small cuts, breaks and swellings), skin hyperextensibility and joints with an extreme range of motion.
Extra informatie
Referenties
Pubmed ID: 31546637
Omia ID: 2165