A Patient with Noonan Syndrome with a
KRAS gene mutation
Nerve root hypertrophy
Noonan syndrome
RASopathy
Ras/MAPK pathway
Journal
Case reports in neurology
ISSN: 1662-680X
Titre abrégé: Case Rep Neurol
Pays: Switzerland
ID NLM: 101517693
Informations de publication
Date de publication:
Historique:
received:
17
07
2020
accepted:
04
10
2020
entrez:
1
4
2021
pubmed:
2
4
2021
medline:
2
4
2021
Statut:
epublish
Résumé
We report a 45-year-old female with clinical features resembling Noonan syndrome (NS) who presented with significant nerve root hypertrophy. She was initially diagnosed with Charcot-Marie-Tooth disease because her gait disturbance gradually deteriorated and nerve conduction velocity was reduced. However, she did not carry a
Identifiants
pubmed: 33790768
doi: 10.1159/000512265
pii: crn-0013-0108
pmc: PMC7989852
doi:
Types de publication
Case Reports
Langues
eng
Pagination
108-118Informations de copyright
Copyright © 2021 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
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