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H363

Epidermolytic hyperkeratosis is a skin disorder that results in dark grey, flaky and 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

Epidermolytic hyperkeratosis is a skin disorder that results in dark grey, flaky and fragile skin. This variant of the disease, found in the Norfolk Terrier, is caused by a recessive mutation to the gene KRT10.

Clinical features

Affected puppies are born with fragile skin that is easily shifted or sloughed. In development, the skin becomes flaky or scaly and dark grey, mostly in intertriginous areas (where skin surfaces fold or rub together). However, there is no notable change to footpads, hair, claws or teeth.

Additional information

References

Pubmed ID: 16029326

Omia ID: 1415

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2. Collect DNA sample

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

3. Results

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