2015
DOI: 10.1136/jmedgenet-2015-103177
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Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines

Abstract: Neurogenic tumours and hypertrophic neuropathy are unusual complications of NSML and may be an under-recognised manifestation that would warrant surveillance. Our observation may also have implications for other disorders caused by RAS-pathway dysregulation.

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Cited by 22 publications
(29 citation statements)
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“…Spinal nerve tumors have always been considered a typical feature of NF1, as well as of other rarer phacomatoses such as Schwannomatosis and NF2 . However, recent papers and results presented here challenge this dogma. Spinal nerve tumors should be regarded as characteristic of a wider spectrum of disorders caused by germline mutations in RASopathy genes, including PTPN11 , KRAS and SOS1 .…”
Section: Discussionmentioning
confidence: 62%
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“…Spinal nerve tumors have always been considered a typical feature of NF1, as well as of other rarer phacomatoses such as Schwannomatosis and NF2 . However, recent papers and results presented here challenge this dogma. Spinal nerve tumors should be regarded as characteristic of a wider spectrum of disorders caused by germline mutations in RASopathy genes, including PTPN11 , KRAS and SOS1 .…”
Section: Discussionmentioning
confidence: 62%
“…The presence of NBOs or paraspinal lesions was excluded. Table shows a comparison of clinical features observed in our patients with those previously reported presenting spinal nerve enlargement or neurofibromas and mutations in RASopathy genes …”
Section: Case Presentationmentioning
confidence: 88%
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