Dominant dystrophic epidermolysis bullosa, generalised (Q96100)
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Generalised dominant dystrophic epidermolysis bullosa manifests as trauma-induced blistering and scarring most prominently over bony prominences, especially the dorsa of the hands, the knees, ankles and feet. It is due to an absence of type VII collagen as the result of mutations in the COL7A1 gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1235671891 |
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| English | Dominant dystrophic epidermolysis bullosa, generalised |
Generalised dominant dystrophic epidermolysis bullosa manifests as trauma-induced blistering and scarring most prominently over bony prominences, especially the dorsa of the hands, the knees, ankles and feet. It is due to an absence of type VII collagen as the result of mutations in the COL7A1 gene. |
Statements
CID11:ID_1235671891
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dki-india-ID_1235671891
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Concluído
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