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Generalized dominant dystrophic epidermolysis bullosa
rareGeneralized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails.
- Identifiers
- MONDO:0007549 OMIM:131750Orphanet:231568
- Causal genes
- COL7A1
- Also known as
- autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types · DDEB · DDEB, generalised · DDEB, generalized · DDEB, Pasini and Cockayne-Touraine types
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