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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 9 |
| Mutation | c.3038del |
| Mode of Inheritance | Autosomique dominante |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | cEDS |
Informations générales
Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. The variant, Type 1, analysed in this specific test is for a form of EDS caused by a dominant mutation to the gene COL5A1 in the Labrador Retriever breed..
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 31546637
Year published: 2019
Omia ID: 2165
Omia variant ID: