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epidermolysis bullosa dystrophica
Wednesday 4 January 2012
Types
autosomal dominant epidermolysis bullosa dystrophica (MIM.131750)
autosomal recessive epidermolysis bullosa dystrophica (MIM.226600)
- mild form of localized recessive epidermolysis bullosa dystrophica (MIM.226600)
Etiology
germline mutations in COL7A1
See also
pretibial epidermolysis bullosa (MIM.131850)
transient bullous dermolysis of the newborn (TBDN) (MIM.131705)
autosomal dominant epidermolysis bullosa pruriginosa (MIM.604129)
autosomal recessive epidermolysis bullosa pruriginosa (MIM.604129)
isolated nail dystrophy (MIM.607523)
COLs
- COL7s
- COL7As