Article

Clinical characteristics and variant spectrum of NF1 in Chinese patients with neurofibromatosis type 1: a cross-sectional study

2026-08-17

Abstract excerpt

Abstract Background Neurofibromatosis type 1 (NF1) is a rare autosomal dominant multisystem disorder caused by NF1 gene variants. Although NF1 shows marked clinical and genetic heterogeneity, large Chinese cohorts integrating clinical features, NF1 variant spectrum, and external variant contextualization remain limited. Methods We conducted a cross-sectional study of 847 clinically confirmed Chinese patients with...

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Literature Corpus work: a20d7c1c-71f8-576f-97d6-d8c98364d004
DOI: 10.1186/s13023-026-04534-9

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