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GENATLAS PHENOTYPE
last update : 24/09/2008
Symbol EBS3B
Location 17q21.2
Name epidermolysis bullosa simplex, localized
Other name(s)
  • epidermolysis bullosa simplex, Weber-Cockayne type
  • epidermolysis bullosa of hands and feet
  • Corresponding gene KRT14
    Other symbol(s) EBS
    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
    autosomal recessive
    Related entries including autosomal recessive epidermolysis bullosa simplex (OMIM 601001)
    Function/system disorder dermatology
    Type disease
    Gene product
    Name
    Remark(s)