Table 24 PBZ total score and MECP2 mutations
PBZ total | Early truncating (n = 9) | Late truncating (n = 5) | Deletions (n = 13) | Frameshift (n = 3) | Missense (n = 24) | C terminal del (n = 14) |
|---|---|---|---|---|---|---|
Mean (SD) | 34.4 (13.5) | 33.4 (9.3) | 38.2 (8.8) | 42.7 (11.6) | 32.6 (9.9) | 23.4 (12) |