A Novel TP53 Germline Mutation in a Family with a History of Multiple Malignancies: Case Report and Review of the Literature

Objective: Choroid plexus carcinoma (CPC) has been associated with TP53 germline mutations and Li-Fraumeni syndrome (LFS). We describe our finding of a novel germline mutation in the TP53 gene in a family with multiple malignancies and in association with a child presenting with CPC. Method: An 8-mo...

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Veröffentlicht in:Pediatric neurosurgery 2008-01, Vol.44 (6), p.501-508
Hauptverfasser: Agarwalla, Pankaj K., Dunn, Ian F., Turner, Christopher D., Ligon, Keith L., Schneider, Katherine A., Smith, Edward R.
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Sprache:eng
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