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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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Kehrer‐Sawatzki, Hildegard, Kordes, Uwe, Seiffert, Simone, Summerer, Anna, Hagel, Christian, Schüller, Ulrich, Farschtschi, Said, Schneppenheim, Reinhard, Bendszus, Martin, Godel, Tim, Mautner, Victor‐Felix
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2018
Ämnen:
Original Articles
Länkar: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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