Associated Papers
Genetic analysis of 25 Chinese pedigrees with neurofibromatosis type 1 and genotype-phenotype study from an extended cohort.
Fei H et al.
Orphanet Journal of Rare Diseases, 2025
40410838 (PubMed )
Supplement: 13023_2025_3807_MOESM1_ESM.xlsx › Supplementary_Table_2
Neurofibromatosis type 1-related pseudarthrosis: Beyond the pseudarthrosis site.
Brekelmans C et al.
Human Mutation, 2019
Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I.
Xu M et al.
Frontiers in Genetics, 2018
30087692 (PubMed )
Supplement: Table_1.XLSX › ____
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
Hutter S et al.
Human Genetics, 2016
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