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...

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Detalles Bibliográficos
Autores principales: Huson, Sue M., Staab, Timo, Pereira, Marta, Ward, Heather, Paredes, Roberto, Evans, D. Gareth, Baumhoer, Daniel, O’Sullivan, James, Cheesman, Ed, Schindler, Detlev, Meyer, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2020
Materias:
Short Communication
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

Internet

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

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