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H884

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.

Working days 10

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. This variant, known as Epidermolysis Bullosa Simplex, is found in the Eurasier, and is caused by a recessive mutation to the gene PLEC.

Caratteristiche cliniche

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.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 27878870

Omia ID: 2080

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