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Case report for an adolescent with germline RET mutation and alveolar rhabdomyosarcoma
In this case report we evaluate the genetics of and scientific basis of therapeutic options for a 14-yr-old male patient diagnosed with metastatic PAX3–FOXO1 fusion positive alveolar rhabdomyosarcoma. A distinguishing genetic feature of this patient was a germline RET C634F mutation, which is a know...
Autores principales: | Crawford, Kenneth A., Berlow, Noah E., Tsay, Jennifer, Lazich, Michael, Mancini, Maria, Noakes, Christopher, Huang, Tannie, Keller, Charles |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2020
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304354/ https://www.ncbi.nlm.nih.gov/pubmed/32532875 http://dx.doi.org/10.1101/mcs.a004853 |
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