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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