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Article

New insights into the molecular basis of spinal neurofibromatosis type 1.

European journal of human genetics : EJHG - 1 Aug 2023

Bettinaglio Paola, Mangano Eleonora, Tritto Viviana, Bordoni Roberta, Paterra Rosina, Borghi Arianna, Volontè Marinella, Battaglia Cristina, Saletti Veronica, Cesaretti Claudia, Natacci Federica, Melone Mariarosa A B, Eoli Marica, Riva Paola

Abstract excerpt

Spinal neurofibromatosis (SNF) is a form of neurofibromatosis type 1 (NF1) characterized by bilateral neurofibromas involving all spinal roots. The pathogenic mechanisms determining the SNF form are currently unknown. To verify the presence of genetic variants possibly related to SNF or classic NF1, we studied 106 sporadic NF1 and 75 SNF patients using an NGS panel of 286 genes encoding RAS pathway effectors and...

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PMID: 37217626
DOI: 10.1038/s41431-023-01377-x
PMCID: PMC10400572

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