amelogenesis imperfecta type 1A

Pathology

• defect of dental enamel formation
• enamel may be hypoplastic, hypomineralized or both

Genetics

• associated with defects in LAMB3

Clinical manifestations

• affected teeth may be discoloured, sensitive or prone to disintegration

Laboratory

• LAMB3 gene mutation

More general terms

• amelogenesis imperfecta

Database

• OMIM: https://mirror.omim.org/entry/104530]