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

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 described. A nine-month-old male presented with...

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Detalles Bibliográficos
Autores principales: Schieffer, Kathleen M., Feldman, Alexander Z., Kautto, Esko A., McGrath, Sean, Miller, Anthony R., Hernandez-Gonzalez, Maria Elena, LaHaye, Stephanie, Miller, Katherine E., Koboldt, Daniel C., Brennan, Patrick, Kelly, Benjamin, Wetzel, Amy, Agarwal, Vibhuti, Shatara, Margaret, Conley, Suzanne, Rodriguez, Diana P., Abu-Arja, Rolla, Shaikhkhalil, Ala, Snuderl, Matija, Orr, Brent A., Finlay, Jonathan L., Osorio, Diana S., Drapeau, Annie I., Leonard, Jeffrey R., Pierson, Christopher R., White, Peter, Magrini, Vincent, Mardis, Elaine R., Wilson, Richard K., Cottrell, Catherine E., Boué, Daniel R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8025529/
https://www.ncbi.nlm.nih.gov/pubmed/33827698
http://dx.doi.org/10.1186/s40478-021-01164-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8025529/
https://www.ncbi.nlm.nih.gov/pubmed/33827698
http://dx.doi.org/10.1186/s40478-021-01164-z

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