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Co‐occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1

BACKGROUND: The clinical phenotype associated with germline SMARCB1 mutations has as yet not been fully documented. It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis. However, the co‐occurrence of rhabdoid tumor and schwannomas in...

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Detalles Bibliográficos
Autores principales: Kehrer‐Sawatzki, Hildegard, Kordes, Uwe, Seiffert, Simone, Summerer, Anna, Hagel, Christian, Schüller, Ulrich, Farschtschi, Said, Schneppenheim, Reinhard, Bendszus, Martin, Godel, Tim, Mautner, Victor‐Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081224/
https://www.ncbi.nlm.nih.gov/pubmed/29779243
http://dx.doi.org/10.1002/mgg3.412