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Examples of genetic conditions caused by mutations outside the exome
| Genetic Disease/Condition | Mutation | References |
|---|---|---|
| Preaxial polydactyly 2 (PPD2) | SHH enhancer | [4–9] |
| Pancreatic agenesis | PTF1A enhancer | [10] |
| Pierre Robin Sequence (PRS) | SOX9 enhancer | [11, 12] |
| Hirshsprung disease | RET enhancer | [13] |
| Isolated congenital heart defect | TBX5 enhancer | [14] |
| F-syndrome, Polydactyly, Brachydactyly | Disruption of TAD boundary elements near WNT6, IHH, EPHA4, and PAX3 | [15] |
