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Infantile fibrosarcoma with TPM3-NTRK1 fusion in a boy with Bloom syndrome
Bloom syndrome (BS) is a genomic and chromosomal instability disorder with prodigious cancer predisposition caused by pathogenic variants in BLM. We report the clinical and genetic details of a boy who first presented with infantile fibrosarcoma (IFS) at the age of 6 months and subsequently was diag...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Netherlands
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8799568/ https://www.ncbi.nlm.nih.gov/pubmed/33219493 http://dx.doi.org/10.1007/s10689-020-00221-1 |