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Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant
Germline pathogenic variants in CBL are associated with an autosomal dominant RASopathy and an increased risk for malignancies, particularly juvenile myelomonocytic leukemia. Herein, we describe a patient with clinical features of a Noonan-spectrum disorder who developed embryonal rhabdomyosarcoma o...
Gorde:
| Argitaratua izan da: | Cancer Genet |
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| Egile Nagusiak: | , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7528629/ https://ncbi.nlm.nih.gov/pubmed/30803559 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cancergen.2018.12.006 |
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