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A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing.

Li-Fraumeni syndrome is caused by germline TP53 mutations and is clinically characterized by a predisposition to a range of cancers, most commonly sarcoma, brain tumours and leukemia. Pathogenic mosaic TP53 mutations have only rarely been described.We describe a 2 years old child presenting with thr...

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Principais autores: Sam Behjati, Mariana Maschietto, Richard D Williams, Lucy Side, Mike Hubank, Rebecca West, Katie Pearson, Neil Sebire, Patrick Tarpey, Andrew Futreal, Tony Brooks, Michael R Stratton, John Anderson
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science (PLoS) 2014-01-01
Serier:PLoS ONE
Online adgang:http://europepmc.org/articles/PMC4014518?pdf=render
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