Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion

Metachronous, non‐pineal, trilateral retinoblastoma in a patient with a seemingly reduced‐expressivity RB1 germline deletion

Abstract 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 a...

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Bibliographic Details
Main Authors: Saga Elise Eiset, Mikkel Funding, Hilary Racher, Steffen Heegaard, Brenda Gallie, Steen Fiil Urbak, Pernille A. Gregersen
Format: Article
Language:English
Published: Wiley 2022-03-01
Series:Clinical Case Reports
Subjects:
DNA copy number analysis
intracranial tumor
RB1
retinoblastoma
trilateral
Online Access:https://doi.org/10.1002/ccr3.5498

Internet

https://doi.org/10.1002/ccr3.5498

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