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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.

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Year Published

General information

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.

Clinical features

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.

Additional information

References

Pubmed ID: 27878870

Omia ID: 2080

How does it work?

1. Select your product(s)

Select your single test, a CombiBreed Package or create your own Bundle.

2. Collect DNA sample

Collect DNA material as indicated with our products and send it to our laboratory.

3. Results

We handle your DNA sample with care and provide you with the results.

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