Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma
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Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma

Kathleen M. Schieffer, Alexander Z. Feldman, Esko A. Kautto, Sean McGrath, Anthony R. Miller, Maria Elena Hernandez-Gonzalez, Stephanie LaHaye, Katherine E. Miller, Daniel C. Koboldt, Patrick Brennan, Benjamin Kelly, Amy Wetzel, Vibhuti Agarwal, Margaret Shatara, Suzanne Conley, Diana P. Rodriguez, Rolla Abu-Arja, Ala Shaikhkhalil, Matija Snuderl, Brent A. Orr, Jonathan L. Finlay, Diana S. Osorio, Annie I. Drapeau, Jeffrey R. Leonard, Christopher R. Pierson, Peter White, Vincent Magrini, Elaine R. Mardis, Richard K. Wilson, Catherine E. Cottrell, Daniel R. Boué;Kathleen M. Schieffer;Alexander Z. Feldman;Esko A. Kautto;Sean McGrath;Anthony R. Miller;Maria Elena Hernandez-Gonzalez;Stephanie LaHaye;Katherine E. Miller;Daniel C. Koboldt;Patrick Brennan;Benjamin Kelly;Amy Wetzel;Vibhuti Agarwal;Margaret Shatara;Suzanne Conley;Diana P. Rodriguez;Rolla Abu-Arja;Ala Shaikhkhalil;Matija Snuderl;Brent A. Orr;Jonathan L. Finlay;Diana S. Osorio;Annie I. Drapeau;Jeffrey R. Leonard;Christopher R. Pierson;Peter White;Vincent Magrini;Elaine R. Mardis;Richard K. Wilson;Catherine E. Cottrell;Daniel R. Boué;
acta neuropathologica communications 2021 Vol. 9 pp. -
134
boué2021actamolecular

Abstract

Retinoblastoma is a childhood cancer of the retina involving germline or somatic alterations of the RB Transcriptional Corepressor 1 gene, RB1. Rare cases of sellar-suprasellar region retinoblastoma without evidence of ocular or pineal tumors have been ...

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DOI:
10.1186/s40478-021-01164-z
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC80255...

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