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Updated: Aug 11, 2025

A Neuronal Apoptosis Model induced by Spinal Cord Compression in Rat
Published on: June 29, 2021
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome
Chiara Leoni1, Germana Viscogliosi1, Roberta Onesimo1
1Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
Abstract:
Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. To date, a total of 16 patients with neurogenic tumors resembling neurofibromas/schwannomas and a molecularly confirmed diagnosis of a non-NF1 RASopathy have been reported, adding this further feature shared among RASopathies.
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