Search

Your search keyword '"Saga Elise Eiset"' showing total 1 results
Start Over Author "Saga Elise Eiset" Topic rb1
1 results on '"Saga Elise Eiset"'

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

Author

Saga Elise Eiset, Mikkel Funding, Hilary Racher, Steffen Heegaard, Brenda Gallie, Steen Fiil Urbak, and Pernille A. Gregersen

Subjects
DNA copy number analysis, intracranial tumor, RB1, retinoblastoma, trilateral, Medicine, Medicine (General), R5-920
Abstract

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 analyses as a useful diagnostic tool with therapeutic potential.

Published
2022
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results