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GENATLAS PHENOTYPE
last update : 16/06/2006
Symbol CDM1
Location 12q13
Name corneal dystrophy, juvenile epitihelial 1, of Meesmann
Corresponding gene KRT3
Main clinical features
  • rish type causing fragility of the anterior corneal epithelium, intraepithelial microcysts visible on slit-lamp examination within the first year of life, increasing in number with age but remaining asymptomatic until late adolescence
  • Genetic determination
    Function/system disorder eye
    Type disease
    Gene product
    Name keratin 3 (KRT3)
    Remark(s)