Table 23 ISS total score and MECP2 mutations
ISS total | Early truncating (n = 22) | Late truncating (n = 8) | Large deletion (n = 18) | Frameshift (n = 9) | Missense (n = 39) | C ter del (n = 18) |
|---|---|---|---|---|---|---|
Mean (SD) | 21.3 (6.2) | 16.7 (4.7) | 19.2 (5.9) | 20.3 (7) | 18.4 (5.7) | 14.2 (6) |