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Distribution of suture involvement in kindreds with and without rare (allele frequency < 2 × 10−5) de novo and transmitted damaging (LOF + D-mis) variants in SMAD6.
| Total # kindreds | Total # SMAD6 mutations (%) | # LOF (%) | |
|---|---|---|---|
| Sagittal | 113 | 3 (2.7) | 2 (1.8) |
| Metopic | 70 | 7 (10) | 3 (3.9) |
| Sagittal and Metopic | 8 | 3 (37.5) | 3 (37.5) |
| Total | 191 | 13 (6.8) | 8 (4.2) |
