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A patient with Neurofibromatosis type 1 and Charcot-Marie-Tooth Disease type 1B

We describe a patient with both Neurofibromatosis type 1 and Charcot-Marie-Tooth disease type 1B. While one might expect an overwhelming tumor burden due to the combination of these two disorders, the two mutations did not appear to interact.

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Detalles Bibliográficos
Autores principales: Lancaster, Eric, Elman, Lauren B., Scherer, Steven S.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2010
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2847649/
https://ncbi.nlm.nih.gov/pubmed/19918771
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mus.21546
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