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Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility.
Working days 10
Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. The variant analysed in this specific test is for a form of EDS caused by a dominant mutation to the gene COL5A1.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 31546637
Omia ID: 2165
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