Journal
MOLECULAR SYNDROMOLOGY
Volume 1, Issue 3, Pages 133-135Publisher
KARGER
DOI: 10.1159/000319976
Keywords
Neurofibromatosis type I; NF1 microdeletion; Proteus syndrome
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Funding
- FAPESP (CEPID - Center for the Study of the Human Genome) [98/14254-2]
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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
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