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An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.

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.

SUBMITTER: Praxedes LA 

PROVIDER: S-EPMC2957849 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature

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An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion.

Praxedes L A LA   Pereira F M FM   Mazzeu J F JF   Costa S S SS   Bertola D R DR   Kim C A CA   Vianna-Morgante A M AM   Otto P A PA  

Molecular syndromology 20100914 3

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. ...[more]

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