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

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DOI

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 as a useful diagnostic tool with therapeutic potential.

OriginalsprogEngelsk
Artikelnummere05498
TidsskriftClinical Case Reports
Vol/bind10
Nummer3
Antal sider6
ISSN2050-0904
DOI
StatusUdgivet - mar. 2022

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© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

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