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References OMIM Gene GeneReviews HGMD HGNC
last update : 04/10/2008
Symbol EBS3A
Location 12q13.2-q13.3
Name epidermolysis bullosa simplex, localized
Other name(s) epidermolysis bullosa simplex, Weber-Cockayne type
Corresponding gene KRT5
Main clinical features
  • localized epidermolysis bullosa of the hands and feet
  • blistering occurs only on the hands and feet and mainly in warm weather after unusual walking or labor with hand tools
  • Genetic determination autosomal dominant
    Related entries including epidermolysis bullosa, of hand and feet
    Function/system disorder dermatology
    Type disease
    Gene product
    Name keratin 5, type II (KRT5)