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Article

Li-Fraumeni syndrome.

Biomedica : revista del Instituto Nacional de Salud - 3 Jun 2016

Ossa Carlos Andrés, Molina Gustavo, Cock-Rada Alicia María

Abstract excerpt

The Li-Fraumeni syndrome is characterized clinically by the appearance of tumors in multiple organs generally at an early age. This hereditary condition is caused by germinal mutations in the TP53 gene, which codifies for the tumoural suppressor gene p53. We present the case of a patient aged 31 with clinical and molecular diagnosis of Li-Fraumeni syndrome who presented two synchronous tumors: a leiomyosarcoma on...

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PMID: 27622479
DOI: 10.7705/biomedica.v36i3.2793

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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