Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1

ConclusionNovel pathogenic variants in theNF1 gene in these families correlated with the phenotype and genotype and explained the clinical manifestations of these patients. The results help us to understand the genetic basis of patients with neurofibromatosis type 1 in China. Our study expands the pathogenic variant spectrum of theNF1 gene and may be helpful in genetic counseling and prenatal genetic diagnosis.

Source: Molecular Genetics & Genomic Medicine - July 24, 2019 Category: Genetics & Stem Cells Authors: Linlin Chen, Feng Xue, Jia Xu, Jinwei He, Wenzhen Fu, Zhenlin Zhang, Qinglin Kang Tags: ORIGINAL ARTICLE Source Type: research