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H497

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 likely to be desirable. This variant, known as Recessive Dystrophic Epidermolysis Bullosa (RDEB), is caused by a recessive mutation to the gene COL7A1. This specific variant occurs in the Golden Retriever. Related versions of RDEB are found in the Central Asian Shepherd and the Basset Hound.

Clinical features

Multiple vesicles, bullae and ulcers in the oral and oropharyngeal mucosa, inner pinnae, dorsal plane of the nose, ventral abdomen, external genital and footpads. Symptoms are recognizable soon after birth. Histological examination shows separation at the dermal-epidermal junction with cleft formation.

Additional information

References

Pubmed ID: 12874109

Omia ID: 341

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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