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@ARTICLE{Farschtschi:125803,
      author       = {S. Farschtschi and V.-F. Mautner and M. Pham and R. Nguyen
                      and H. Kehrer-Sawatzki and S. Hutter$^*$ and R. E. Friedrich
                      and A. Schulz and H. Morrison and D. Jones$^*$ and M.
                      Bendszus and P. Bäumer$^*$},
      title        = {{M}ultifocal nerve lesions and {LZTR}1 germline mutations
                      in segmental schwannomatosis.},
      journal      = {Annals of neurology},
      volume       = {80},
      number       = {4},
      issn         = {0364-5134},
      address      = {Hoboken, NJ},
      publisher    = {Wiley-Blackwell},
      reportid     = {DKFZ-2017-01927},
      pages        = {625 - 628},
      year         = {2016},
      abstract     = {Schwannomatosis is a genetic disorder characterized by the
                      occurrence of multiple peripheral schwannomas. Segmental
                      schwannomatosis is diagnosed when schwannomas are restricted
                      to 1 extremity and is thought to be caused by genetic
                      mosaicism. We studied 5 patients with segmental
                      schwannomatosis through microstructural magnetic resonance
                      neurography and mutation analysis of NF2, SMARCB1, and
                      LZTR1. In 4 of 5 patients, subtle fascicular nerve lesions
                      were detected in clinically unaffected extremities. Two
                      patients exhibited LZTR1 germline mutations. This appears
                      contrary to a simple concept of genetic mosaicism and
                      suggests more complex and heterogeneous mechanisms
                      underlying the phenotype of segmental schwannomatosis than
                      previously thought. Ann Neurol 2016;80:625-628.},
      keywords     = {LZTR1 protein, human (NLM Chemicals) / Transcription
                      Factors (NLM Chemicals)},
      cin          = {B062 / E010},
      ddc          = {610},
      cid          = {I:(DE-He78)B062-20160331 / I:(DE-He78)E010-20160331},
      pnm          = {315 - Imaging and radiooncology (POF3-315)},
      pid          = {G:(DE-HGF)POF3-315},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:27472264},
      doi          = {10.1002/ana.24753},
      url          = {https://inrepo02.dkfz.de/record/125803},
}