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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 | 11 |
| Mutation | c.769C>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders, causing loose skin and joint hypermobility. The variant analysed in this test, Ehlers-Danlos Syndrome type VII (Type 7, also known as Dermatosparaxis) is found in the Doberman Pinscher, and is caused by a recessive mutation to the gene ADAMTS2. Similar variants of Dermatosparaxis also affect the Alapaha Blue Blood Bulldog, Pit Bull Terrier and the Catahoula Leopard Dog.
Caractéristiques cliniques
Affected puppies may die at birth. Survivors present within the first few weeks of age with loose, elastic and fragile skin; painful and hypermobile joints; and ocular chemosis (swollen eyes). The skin is easily injured or torn, and wounds are persistent. Euthanasia on humane grounds may be necessary.
Additional Information
Références
Pubmed ID: 31294848
Year published: 2019
Omia ID: 328
Omia variant ID: 1117