An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

Author(s)

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.

• Document type: Journal article
• Source: MOLECULAR SYNDROMOLOGY; v. 1, n. 3, p. 3-pg., 2010-01-01.

Abstract

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. Copyright (C) 2010 S. Karger AG, Basel (AU)

• FAPESP's process: 98/14254-2 - The Human Genome Research Center
• Grantee: Mayana Zatz
• Support Opportunities: Research Grants - Research, Innovation and Dissemination Centers - RIDC