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Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
Epidermolysis Bullosa (EB, also called Ectodermal Dysplasia or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia is usually required for affected dogs. The specific version of the disease analysed in this test, known as Junctional Epidermolysis Bullosa (JEB), is caused by a recessive mutation to the gene LAMA3. This variant is found in the German Shorthaired Pointer. A closely related variant is also found in the Australian Cattle Dog.
Caratteristiche cliniche
Affected dogs show general symptoms of skin fragility, including painful blistering of the skin and mucous membranes, as well as the formation of ulcers on the paw pads.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 15737193
Omia ID: 1677