Open AccessAn Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion
Author(s) -
Leide de Almeida Praxedes,
F.M. Pereira,
Juliana F. Mazzeu,
Silvia Souza da Costa,
Débora Romeo Bertola,
Chong Ae Kim,
Angela Maria ViannaMorgante,
Paulo Alberto Otto
Publication year - 2010
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000319976
Subject(s) - neurofibromatosis , medicine , microdeletion syndrome , neurofibromatosis type i , proteus syndrome , pediatrics , dermatology , pathology , genetics , gene , biology , phenotype
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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