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Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

SIMPLE SUMMARY: Neurofibromatosis type 1 (NF1) is a complex disorder characterized by a multisystem involvement and cancer predisposition. It is caused by genetic variants in NF1, a large tumor suppressor gene encoding a cytoplasmatic protein (neurofibromin) with a regulatory role in essential cellu...

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Detalles Bibliográficos
Autores principales: Scala, Marcello, Schiavetti, Irene, Madia, Francesca, Chelleri, Cristina, Piccolo, Gianluca, Accogli, Andrea, Riva, Antonella, Salpietro, Vincenzo, Bocciardi, Renata, Morcaldi, Guido, Di Duca, Marco, Caroli, Francesco, Verrico, Antonio, Milanaccio, Claudia, Viglizzo, Gianmaria, Traverso, Monica, Baldassari, Simona, Scudieri, Paolo, Iacomino, Michele, Piatelli, Gianluca, Minetti, Carlo, Striano, Pasquale, Garrè, Maria Luisa, De Marco, Patrizia, Diana, Maria Cristina, Capra, Valeria, Pavanello, Marco, Zara, Federico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8070780/
https://www.ncbi.nlm.nih.gov/pubmed/33919865
http://dx.doi.org/10.3390/cancers13081879