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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6819239

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

About this item

Full title

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

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Acta neuropathologica, 2020-04, Vol.139 (4), p.625-641

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

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 central nervous system (CNS) manifestations incl...

Alternative Titles

Full title

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

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6819239

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6819239

Other Identifiers

ISSN

0001-6322

E-ISSN

1432-0533

DOI

10.1007/s00401-019-02002-2

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