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Patients by clinical diagnosis and genotype
| Diagnosis | No. patients with tracheal sleeve |
No. patients with genetic testing |
Gene | Genotype |
|---|---|---|---|---|
| Pfeiffer | 9 | 8 | FGFR2 | W290C (n = 5) |
| C342R (n = 2) | ||||
| C278L (n = 1) | ||||
|
| ||||
| Crouzon | 5 | 5 | FGFR2 | C342R (n = 2) |
| C278F (n = 1) | ||||
| C342Y (n = 1) | ||||
| S347C (n = 1) | ||||
|
| ||||
| Apert | 5 | 1 | FGFR2 | S252W (n = 1) |
|
| ||||
| Crouzon with acanthosis nigricans | 1 | 1 | FGFR3 | A371E (n = 1) |
|
| ||||
| Saethre-Chotzen | 1 | 1 | TWIST1 | Tyr103term (n = 1) |
