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Reference: [18]
| Genes involved | Mutations of genes | Defect |
| PAX9 | K114X, L21P, R26W, R28P, G51S, K91E, G73fsX316, V265fsX316 & R59fsX177 | Molar hypodontia, oligodontia, peg-shaped laterals |
| MSX1 | M61K, S105X, Q187X, R196P & S202X | Hypodontia, oligodontia |
| AXIN2 | Arg656Stop, 1994- 1995insG | Incisor agenesis |
| LTBP3 | Y774X | Oligodontia |
| EDA | Thr338Met | Hypodontia |
