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SOX2 variant types and growth hormone and gonadotropin deficiency presence or absence
| Growth hormone deficiency | No growth hormone deficiency | Unknown | Gonadotropin deficiency | Normal gonadotropin | Unknown | Short stature | |
|---|---|---|---|---|---|---|---|
| Total | 16 | 7 | 16 | 14 | 5 | 20 | 21 |
| Deletion/translocation | 4 | 1 | 3 | 5 | 1 | 2 | 5 |
| c.70_89del | 3 | 1 | 2 | 3 | 0 | 4 | 4 |
| Frameshift | 4 | 3 | 7 | 4 | 2 | 7 | 7 |
| Missense | 1 | 1 | 1 | 1 | 0 | 1 | 1 |
| Nonsense | 3 | 0 | 2 | 1 | 2 | 4 | 3 |
