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Article

Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Feb 2014

Nicita Francesco, Torrente Isabella, Spalice Alberto, Bottillo Irene, Papetti Laura, Pinna Valentina, Ursitti Fabiana, Ruggieri Martino

Abstract excerpt

Familial spinal neurofibromatosis (FSNF) is a rare form of neurofibromatosis type 1 (NF1) characterized by multiple, histologically proven neurofibromas of the spinal roots leaving no intact segments and associated neurofibromas of major peripheral nerves. It is sometimes associated with other NF1 stigmata. Most patients have NF1 gene mutations. We describe a patient who fulfilled the diagnostic criteria for...

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PMID: 23954459
DOI: 10.1016/j.jocn.2013.01.026

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