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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Kehrer‐Sawatzki, Hildegard, Kordes, Uwe, Seiffert, Simone, Summerer, Anna, Hagel, Christian, Schüller, Ulrich, Farschtschi, Said, Schneppenheim, Reinhard, Bendszus, Martin, Godel, Tim, Mautner, Victor‐Felix
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2018
Matèries:
Original Articles
Accés en línia: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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