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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 | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| 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 is usually required for affected dogs. This variant, known as Epidermolysis Bullosa Simplex, is found in the Eurasier, and is caused by a recessive mutation to the gene PLEC.
Kliniske egenskaper
Affected puppies present within days after birth with reduced body size, underweight and widespread formation of ulcers on the lips, tongue, nose, paws and abdomen. Due to poor quality of life, euthanasia is likely to be necessary.
Tilleggsinformasjon
Referanser
Pubmed ID: 27878870
Omia ID: 2080