Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.
Zeqian NingZhiqian YangGaofei ChenWenjiao WuLongshuang HeYesheng SunDongpeng CaiWei ZhangPublished in: Molecular genetics & genomic medicine (2019)
A case of SNF with classic NF1 mutation in a classic NF1 family was identified for the first time, indicating that SNF may share the same gene mutation with NF1, while the different manifestation of NF1 and SNF may be related to gene modification.