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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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| 發表在: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| 在線閱讀: | 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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