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H778

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 is often required for affected dogs. This variant of the disorder, known as Junctional Epidermolysis Bullosa (JEB), is found in the Australian Shepherd. It is caused by a recessive mutation to the gene LAMB3.

Clinical features

Affected puppies manifest within the first few months of life with reduced growth, as well as ulcers in the mouth, throat and ears. Further ulcers may also develop on the abdomen, joints and paw pads. These lesions are typically severe, and affected dogs are generally euthanized on humane grounds within the first six months of life.

Additional information

References

Pubmed ID: 32906717

Omia ID: 2269

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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