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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