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 lim...

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Autores principales: Alexander M. Helfand, Ariella Nouriel, Jonah Zisquit, Aviv Barzilai, Shoshana Greenberger
Formato: article
Lenguaje:EN
Publicado: Mattioli1885 2015
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Acceso en línea:https://doaj.org/article/289fd487b73842099388d7e851bf17de
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