NF1 and neurofibromatosis type 1: In this study, the traditional sanger sequencing method was used to identify the pathogenic mutations of the NF1 gene.[8] Clinical phenotypes might vary in patient with neurofibromatosis type 1, but individuals in this study were diagnosed with NF1 only when they met 2 or more of the neurofibromatosis type 1 diagnostic criteria of the National Institutes of Health.[9] In this article, we reported the clinical phenotype and genetic characteristics of patients in a family with neurofibromatosis type 1 confirmed by clinical symptoms and gene detection.