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An update on the central nervous system manifestations of neurofibromatosis type 1

Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene and subsequently, abnormal function of the protein product, neurofibromin. Patients with NF1 are at increased risk for centra...

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Detalhes bibliográficos
Publicado no:Acta Neuropathol
Main Authors: Nix, J. Stephen, Blakeley, Jaishri, Rodriguez, Fausto J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6819239/
https://ncbi.nlm.nih.gov/pubmed/30963251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-019-02002-2
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