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Gorlin Syndrome and Desmoplastic Medulloblastoma: Report of 3 Cases With Unfavorable Clinical Course and Novel Mutations
We present three cases of genetically confirmed Gorlin syndrome with desmoplastic medulloblastoma (DMB) in whom tumor recurred despite standard therapy. One patient was found to have a novel germline missense PTCH1 mutation. Molecular analysis of recurrent tumor using fluorescent in situ hybridizati...
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| Publicado no: | Pediatr Blood Cancer |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4765346/ https://ncbi.nlm.nih.gov/pubmed/25940061 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.25560 |
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