Neurofibromatose tipo 1 em idade pediátrica: o que vigiar?

Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. It is an autosomal dominant hereditary condition, although an half of all cases are related with spontaneous mutations. Mutations within NF1 gene (c17q11.2) result in loss of function of the protein neurofibromin lead...

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Bibliographic Details
Main Authors: Cristina L Martins, J Paulo Monteiro, Anabela Farias, Rita Fernandes, Maria José Fonseca
Format: Article
Language:English
Published: Ordem dos Médicos 2008-01-01
Series:Acta Médica Portuguesa
Online Access:https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/886