An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

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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Veröffentlicht in:Molecular syndromology 2010-09, Vol.1 (3), p.133-135
Hauptverfasser: 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: Artikel
Sprache:eng
Schlagworte:
Case Report
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Zusammenfassung: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.
ISSN:1661-8769
1661-8777
DOI:10.1159/000319976