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Article

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

Clinical genetics - 1 Jan 2018

Santoro C, Giugliano T, Melone M A B, Cirillo M, Schettino C, Bernardo P, Cirillo G, Perrotta S, Piluso G

Abstract excerpt

Neurofibromatosis type 1 (NF1) has long been considered a well-defined, recognizable monogenic disorder, with neurofibromas constituting a pathognomonic sign. This dogma has been challenged by recent descriptions of patients with enlarged nerves or paraspinal tumors, suggesting that neurogenic tumors and hypertrophic neuropathy may be a complication of Noonan syndrome with multiple lentigines (NSML) or RASopathy...

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Identifiers

PMID: 28456002
DOI: 10.1111/cge.13047

Genes

SOS1

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