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GENATLAS PHENOTYPE
last update : 13/07/2006
Symbol IHCM
Location 12q13
Name ichthyosis hystrix, Curth-Macklin type
Corresponding gene KRT1
Main clinical features
  • ichthyosis hystrix, concentric unbroken shells of abnormal tonofilaments form around the nucleus with abnormalities in supramolecular keratin intermediate filament organization
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease