amelogenesis imperfecta hypomaturation type 2A1

amelogenesis imperfecta hypomaturation type 2A1

An autosomal recessive defect of enamel formation (OMIM:204700), which affects the primary and secondary dentition. The teeth have a shiny, agar-like appearance, and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.
 
Molecular pathology
Amelogenesis imperfecta hypomaturation type 2A1 is caused by a defect in KLK4, located on 19q13.41.
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