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Mutations that reoccurred in the same family
| Syndrome | Mutation | No. of recurrences |
|---|---|---|
| Osteogenesis imperfecta | COL1A2‐G994D (c.2981 G>A) | 1 recurrence |
| Rett | MECP‐R294X (c.880 C>T) | 1 recurrence |
| Tuberous sclerosis | TSC1‐R786X (c.2356 C>T) | 1 recurrence |
GenBank reference no: COL1A2 (NG_007405.1), MECP2 (NG_007107.2), TSC1 (NG_012386.1).
