Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature review

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 suffere...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Ning, Zeqian, Yang, Zhiqian, Chen, Gaofei, Wu, Wenjiao, He, Longshuang, Sun, Yesheng, Cai, Dongpeng, Zhang, Wei
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6978228/
https://ncbi.nlm.nih.gov/pubmed/31713330
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1035
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