Phenotypic and genotypic characteristics of pediatric patients with neurofibromatosis type 1: a 12-year single-center cohort study.

Males had significantly lower height standard deviation scores (standard deviation scores) than females, and P50 growth curves were consistently below those of healthy reference values.

Truncating variants were the most common (60.8%).

Patients harboring single amino acid variations exhibited a significantly higher prevalence of short stature than those with truncating variants, whereas splice variants were associated with unidentified bright objects (unidentified bright objects) and optic nerve abnormalities.