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GENATLAS PHENOTYPE
last update : 23-04-2012
Symbol EBS6
Location 6p12.1
Name Epidermolysis bullosa simplex on chromosome 6
Corresponding gene DST
Main clinical features
  • inherited skin fragility disorder, generalized trauma-induced spontaneous blisters and erosions, particularly around the ankles
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Remark(s)