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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.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Generell informasjon
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 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.
Kliniske egenskaper
Symptomer oppstår umiddelbart etter fødselen, nese og tredeputer spontant avstøtes. Eksponert hud som øretipper eller hud vil blø eller avstøtes hvis moren slikker eller gnir på den. Affiserte valper har også finere, tynnere pels.
Tilleggsinformasjon
Referanser
Pubmed ID: 22384142
Omia ID: 1864