amelogenesis imperfecta type 2A2

amelogenesis imperfecta type 2A2

An autosomal recessive defect of enamelogenesis of the primary and secondary dentition (OMIM:612529), in which the teeth have a shiny agar jelly or opalescent appearance; the enamel is softer than normal and has a nasty brown colour.

Molecular pathology
Defects in MMP20, which encodes a matrix metalloproteinase, cause AI2A2.
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