Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple no...
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas
About this item
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Author / Creator
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
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Scope and Contents
Contents
Schwannomatosis and neurofibromatosis type 2 (NF2) are both characterized by the development of multiple schwannomas but represent different genetic entities. Whereas NF2 is caused by mutations of the
NF2
gene, schwannomatosis is associated with germline mutations of
SMARCB1
or
LZTR1
. Here, we studied 15 sporadic patients with mu...
Alternative Titles
Full title
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas
Authors, Artists and Contributors
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Record Identifier
TN_cdi_proquest_miscellaneous_2070244734
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2070244734
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-018-1909-9
