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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...

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Detalles Bibliográficos
Autores principales: Helfand, Alexander M., Nouriel, Ariella, Zisquit, Jonah, Barzilai, Aviv, Greenberger, Shoshana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Derm101.com 2015
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