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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Detalhes bibliográficos
Publicado no: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 em: John Wiley and Sons Inc. 2018
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Original Articles
Acesso em linha: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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