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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Formato: | article |
Lenguaje: | EN |
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Mattioli1885
2015
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Acceso en línea: | https://doaj.org/article/289fd487b73842099388d7e851bf17de |
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