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
Publicado en:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2018
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081224/
https://ncbi.nlm.nih.gov/pubmed/29779243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.412
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