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Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion
The clinical course of trilateral retinoblastoma can be unpredictable, and expressivity of germline RB1 variants may vary during development. We describe an unexpected fatal case of trilateral retinoblastoma with an intracranial tumor in an unusual location and discuss genetic copy number analyses a...
Autores principales: | Eiset, Saga Elise, Funding, Mikkel, Racher, Hilary, Heegaard, Steffen, Gallie, Brenda, Urbak, Steen Fiil, Gregersen, Pernille A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8933631/ https://www.ncbi.nlm.nih.gov/pubmed/35340648 http://dx.doi.org/10.1002/ccr3.5498 |
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