SDPS-18 RHABDOID TUMOR PREDISPOSITION SYNDROME IN TWO INFANT SIBLINGS WITH ATYPICAL TERATOID RHABDOID TUMORS DUE TO A GERMLINE SMARCB1 MUTATION

Atypical teratoid rhabdoid tumors (ATRT) are aggressive, malignant tumors of the central nervous system (CNS) that develop due to a loss-of-function mutation in the SMARCB1 gene. Rhabdoid tumor predisposition syndrome (RTPS) is characterized by familial cases as a result of pathogenic germline varia...

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Detalles Bibliográficos
Autores principales: Quintero, Ana, Hanson, Derek, Pedro, Helio, Vogel, Timothy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Final Category: Screening/Diagnostics/Prognostics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402374/
http://dx.doi.org/10.1093/noajnl/vdad070.076

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10402374/
http://dx.doi.org/10.1093/noajnl/vdad070.076

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