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Ectodermal Dysplasia (ED, also called Epidermolysis Bullosa or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin.
10 días laborables
Especificaciones
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 7 |
| Mutation | c.202+1G>C |
| Mode of Inheritance | Autosómico recesivo |
| Organ | |
| Specimen | Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido |
| Also known as | ED-SFS |
Información específica de la prueba
Ectodermal Dysplasia (ED, also called Epidermolysis Bullosa or Skin Fragility Syndrome) is a severe tissue disorder that results in hair loss and in extremely fragile skin. Euthanasia on humane grounds is typically necessary for affected dogs.
This variant (ED-SFS), found in the Golden Retriever and Chesapeake Bay Retriever, is caused by a recessive mutation to the gene PKP1. The closely-related disorder Dystrophic Epidermolysis Bullosa is also found in the Golden Retriever.
Características clínicas
Symptoms of Ectodermal Dysplasia in affected puppies occur immediately after birth, with nose and footpads spontaneously sloughing (rubbing or sliding off). Exposed skin such as ear tips or skin will bleed or slough if licked by the mother or otherwise rubbed. Affected puppies also have finer, thinner fur.
Información adicional
Referencias
Pubmed ID: 22384142
Year published: 2012
Omia ID: 1864
Omia variant ID: 417