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Table 1 Demografic and clinical characteristics of the 138 patients with NF1 included in the study

From: Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

FeatureMild phenotype (n = 49)Moderate (n = 43)Severe phenotype (n = 46)Whole cohort (n = 138)
Mean age (average)21.1 years
(2.2–55.9 years)
14.6 years
(1.2–36.4 years)
12.9 years*
(0.6-53.5 years)
16.4 years
(0.60–55.90 years)
No mutationN = 13N = 8N = 10N = 30
GenderM = 19; F = 30M = 27; F = 16M = 22; F = 24M = 68; F = 70
CALMs49 (100%)43 (100%)46 (100%)138
Lisch nodules18 (36.8%)20 (46,5%)25 (54.4%)63 (45,6%)
Axillary and/or inguinal freckling37 (75.5%)37 (86.0%)33 (71.8%)107 (77,5%)
Plexiform neurofibroma0 (0.0%)9 (20.9%)9 (19/6%)18 (13%)
Mild non-progressive scoliosis21 (42.9%)20 (46.5%)NA41 (29,7%)
Progressive scoliosis0 (0.0%)18 (41.8%)25 (54.4%)43 (31,1%)
Heart involvement7 (14.3%)9 (20.9%)12 (26.1%)28 (20,2%)
OPG0 (0.0%)0 (0.0%)27 (58.7%)27 (19,5%)
Other tumors0 (0.0%)0 (0.0%)17 (37.0%)17 (12,3%)
Development delay and/or cognitive deficit0 (0.0%)028 (60.9%)28 (20,2%)
  1. *for 45 living subjects; F females, M males, NA not available