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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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Specifiche
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| Gene | |
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| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
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Informazioni generali
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.
Caratteristiche cliniche
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.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 32906717
Omia ID: 2269