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
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F et al.
Genes, 2022
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Santoro C et al.
American Journal of Medical Genetics. Part A, 2017
Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1.
Ribeiro MJ et al.
Investigative Ophthalmology & Visual Science, 2012
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