Article
Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review.
Molecular genetics & genomic medicine - 1 Jan 2020
Ning Zeqian, Yang Zhiqian, Chen Gaofei, Wu Wenjiao, He Longshuang, Sun Yesheng, Cai Dongpeng, Zhang Wei
Abstract excerpt
BACKGROUND: Spinal neurofibromatosis (SNF) is a related form of Neurofibromatosis type 1 (NF1) with a low incidence. Here, we report a SNF patient with NF1 (OMIM *613113) mutation in a classic NF1 family to enrich the case data. METHODS: We presented the clinical data of a 27-year-old female suffered from SNF. Two NF1 individuals (the mother and the brother) in the patient's family were also described. In the SNF...
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