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Table 1 Demographic characteristics in patients with and without rare manifestations and in patients with and without malignancies

From: Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

Characteristics Patients with rare manifestations, n (%) Patients without rare manifestations, n (%) p value Patients with malignancies, n (%) Patients without malignancies, n (%) p value
Age at consent, years N = 382 N = 1829   N = 65 N = 2146  
Mean (SD) 28.4 (16.71) 15.0 (14.15)  < 0.0001 32.7 (18.86) 16.9 (15.11)  < 0.0001
Median (range) 26.0 (0–71) 10.0 (0–71)   31 (0–68) 12 (0–71)  
Age at first TSC diagnosis, years       
Mean (SD) 12.4 (16.68) 5.8 (10.87)  < 0.0001 16.9 (18.94) 6.6 (11.95)  < 0.0001
Median (range) 2.0 (0–69) 1.0 (0–67)   10.5 (0–67) 1 (0–69)  
Sex, n (%)       
Male 159 (41.6) 900 (49.2) 0.007 22 (33.8) 1036 (48.3) 0.0214
Female 223 (58.4) 928 (50.8)   43 (66.2) 1109 (51.7)  
Mutation, n (%)       
TSC1 39 (21.1) 152 (18.4) NS 10 (32.3) 181 (18.5) 0.0366
TSC2 124 (67.0) 525 (63.6)   15 (48.4) 634 (64.7)  
NMI 19 (10.3) 129 (15.6)   6 (19.4) 142 (14.5)  
  1. NMI, no mutation identified; NS, not significant; SD, standard deviation; TSC, tuberous sclerosis complex