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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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Библиографические подробности
Главные авторы: Russell-Swetek, Aubrey, West, Alina N., Mintern, Jane E., Jenkins, Jesse, Rodriguez-Galindo, Carlos, Ribeiro, Raul, Zambetti, Gerard P.
Формат: Artigo
Язык:Inglês
Опубликовано: 2008
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Online-ссылка: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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