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Segmental neurofibromatosis presenting with congenital excessive skin folds
Segmental neurofibromatosis (SNF) is a rare type of neurofibromatosis (NF-1) resulting from post-zygotic somatic mutations in the neurofibromin gene that leads to mosaicism. Reported manifestations of SNF include neurofibromas, freckling, or café-au-lait spots limited to a single body region or limb...
Autores principales: | Helfand, Alexander M., Nouriel, Ariella, Zisquit, Jonah, Barzilai, Aviv, Greenberger, Shoshana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Derm101.com
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462912/ https://www.ncbi.nlm.nih.gov/pubmed/26114065 http://dx.doi.org/10.5826/dpc.0502a21 |
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