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Mutations in known syndromic genes in multiplex NSC kindreds
| Craniosynostosis type | Gene | Mutation | ExAC frequency | pLI |
| Metopic | ERF | S532fs | Novel | 0.81 |
| Sagittal, Coronal | MSX2 | P148S | Novel | 0.42 |
| Sagittal | TCF12 | IVS12+2 > insT | Novel | 0.97 |
| Sagittal | TWIST1 | Y160C | Novel | 0.18 |
