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H375

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

Also known as

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 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.

Clinical features

Symptoms 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.

Additional information

References

Pubmed ID: 22384142

Omia ID: 1864

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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