Open access
Aug 2026
Clinical characteristics and variant spectrum of NF1 in Chinese patients with neurofibromatosis type 1: a cross-sectional study
A cross-sectional study of 847 clinically confirmed Chinese patients with NF1 to characterize demographic features, clinical manifestations, DNB-defined severity, and variant spectrum and expands the known NF1 variant spectrum in this population.
Ya-Xin Guo, Xin-De Liu, Yi-Qiu Yan et al.
· Orphanet Journal of Rare Dis... · 0 citations