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

Zhiying Li Xin Li Tian-Lian Wen Bi-Yun Feng Yang Song Jia-Yue Hu Ting-Ting Yu Ru-En Yao Xiu-Min Wang
Sep 2026 · World Journal of Pediatrics · 0 citations · 34 references
Medicine

TL;DR

By incorporating growth data from childhood, this study construct sex-specific growth curves and provide a precise reference for the evaluation of growth abnormalities in pediatric NF1, and expands the current understanding of phenotypic heterogeneity and genotype-phenotype correlations in pediatric NF1.

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