Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil.

Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer predisposition syndrome caused by pathogenic germline variants in the TP53 gene, characterized by a predisposition to the development of a broad spectrum of tumors at an early age. The core tumors related to LFS are bone and soft tissue sarc...

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Autores principales: Camila Matzenbacher Bittar, Yasminne Marinho de Araújo Rocha, Igor Araujo Vieira, Clévia Rosset, Tiago Finger Andreis, Ivaine Tais Sauthier Sartor, Osvaldo Artigalás, Cristina B O Netto, Barbara Alemar, Gabriel S Macedo, Patricia Ashton-Prolla
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2021
Materias:
Medicine
R
Science
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Acceso en línea:https://doaj.org/article/5faa01362f1d4910bee4c50e4ee2336c
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https://doaj.org/article/5faa01362f1d4910bee4c50e4ee2336c

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