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Table 24 PBZ total score and MECP2 mutations

From: Rett syndrome: a wide clinical and autonomic picture

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)