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A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy

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. How...

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Detalles Bibliográficos
Autores principales: Ando, Yoshihito, Sawada, Mikio, Kawakami, Tadataka, Morita, Mitsuya, Aoki, Yoko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989852/
https://www.ncbi.nlm.nih.gov/pubmed/33790768
http://dx.doi.org/10.1159/000512265

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