An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

We report on a patient with NF1 microdeletion and clinical manifestations that fulfill the diagnostic criteria for neurofibromatosis type 1 but also presenting features reminiscent of Proteus syndrome.

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Autors principals: Praxedes, L.A., Pereira, F.M., Mazzeu, J.F., Costa, S.S., Bertola, D.R., Kim, C.A., Vianna-Morgante, A.M., Otto, P.A.
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2010
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2957849/
https://ncbi.nlm.nih.gov/pubmed/21031083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000319976
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