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Dystrophic Epidermolysis Bullosa

General

Disease Name
Dystrophic Epidermolysis Bullosa
Mutation
c.5716G>A
Mutation 2
c.202+1G>C
Test Type
Genetic Disease/Disorder
Details
Dystrophic Epidermolysis Bullosa causes fragile, easily damaged skin that results in blisters, ulcers, scaring. Other signs can include retarded growth, and am affected mucosal linings. Age of onset from birth.
Details 2
Dystrophic Epidermolysis Bullosa causes fragile, easily damaged skin that results in blisters, ulcers, scaring. Other signs can include retarded growth, and am affected mucosal linings. Age of onset from birth. Considered rare.
Published
Baldeschi, C., Gache, Y., Rattenholl, A., Bouillé, P., Danos, O., Ortonne, J.P., Bruckner-Tuderman, L., Meneguzzi, G. : Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. Hum Mol Genet 12:1897-905, 2003. Pubmed reference: 12874109.
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