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A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome

Li–Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 (TP53) gene and elevated risk of a broad range of early-onset malignancies. Patients with LFS are at risk of a second and third primary tumor. A 15-mon...

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Detalles Bibliográficos
Autores principales: Papadimitriou, Dimitrios T., Stratakis, Constantine A., Kattamis, Antonis, Glentis, Stavros, Dimitrakakis, Constantine, Spyridis, George P., Christopoulos, Panagiotis, Mastorakos, George, Vlahos, Nikolaos F., Iacovidou, Nicoletta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10378136/
https://www.ncbi.nlm.nih.gov/pubmed/37508646
http://dx.doi.org/10.3390/children10071150