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Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotyp...

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Detalles Bibliográficos
Autores principales: Penkert, Judith, Strüwe, Farina J., Dutzmann, Christina M., Doergeloh, Beate B., Montellier, Emilie, Freycon, Claire, Keymling, Myriam, Schlemmer, Heinz-Peter, Sänger, Birte, Hoffmann, Beatrice, Gerasimov, Tanja, Blattmann, Claudia, Fetscher, Sebastian, Frühwald, Michael, Hettmer, Simone, Kordes, Uwe, Ridola, Vita, Kroiss Benninger, Sabine, Mastronuzzi, Angela, Schott, Sarah, Nees, Juliane, Prokop, Aram, Redlich, Antje, Seidel, Markus G., Zimmermann, Stefanie, Pajtler, Kristian W., Pfister, Stefan M., Hainaut, Pierre, Kratz, Christian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9382737/
https://www.ncbi.nlm.nih.gov/pubmed/35974385
http://dx.doi.org/10.1186/s13045-022-01332-1