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Identification of a Novel TP53 Germline Mutation E285V in a Rare Case of Pediatric Adrenocortical Carcinoma and Choroid Plexus Carcinoma

Pediatric choroid plexus carcinomas (CPC) and adrenocortical carcinomas (ACC) are exceedingly rare tumors, each occurring at an annual rate of 0.3 cases per million children or less. Although both tumor types are associated with Li-Fraumeni Syndrome (LFS), the penetrance of germline TP53 mutations i...

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Detalhes bibliográficos
Main Authors: Russell-Swetek, Aubrey, West, Alina N., Mintern, Jane E., Jenkins, Jesse, Rodriguez-Galindo, Carlos, Ribeiro, Raul, Zambetti, Gerard P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3487594/
https://ncbi.nlm.nih.gov/pubmed/18762572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.059568
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