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GENATLAS PHENOTYPE
last update : 25/10/2008
Symbol AIPH1
Location 19q13
Name amelogenesis imperfecta, pigmented, hypomaturation type
Corresponding gene KLK4
Main clinical features
  • disorder involved both the primary and the secondary dentitions
  • shiny agar jelly appearance of teeeth and the enamel softer than normal
  • histologically a brown pigment, which was probably not derived from blood pigments, was demonstrable in the middle layers of enamel
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name kallikrein 4
    Remark(s)