A Novel TP53 Germline Mutation in a Family with a History of Multiple Malignancies: Case Report and...
A Novel TP53 Germline Mutation in a Family with a History of Multiple Malignancies: Case Report and Review of the Literature
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Publisher
Basel, Switzerland: S. Karger AG
Journal title
Language
English
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Publisher
Basel, Switzerland: S. Karger AG
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Scope and Contents
Contents
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-month-old male presented with seizure-like activity;...
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Full title
A Novel TP53 Germline Mutation in a Family with a History of Multiple Malignancies: Case Report and Review of the Literature
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TN_cdi_proquest_miscellaneous_66652512
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_66652512
Other Identifiers
ISSN
1016-2291
E-ISSN
1423-0305
DOI
10.1159/000187125
