Simultaneous Occurrence of Germline Pathogenic Allele Variants of TMEM127 and TP53 in a Brazilian Family With Li-Fraumeni Syndrome

Background: We will describe a Brazilian family whose index case had pheochromocytoma and in the evaluation of the genetic panel by Next Generation Sequence (NGS), the germline pathogenic variants in the TMEM127 and TP53 genes were identified. Clinical Case: A 32-year-old female patient with a clini...

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Detalles Bibliográficos
Autores principales: Lima, Jose Viana, Scalissi, Nilza Maria, Ricardo, Gustavo Piech, Piech, Mr Gustavo, Biscolla, Rosa Paula Mello, Chiamolera, Maria Izabel, Olivati, Caroline, Baratela, Wagner, Ferreira, Elisa Napolitano, Kater, Claudio E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Tumor Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089246/
http://dx.doi.org/10.1210/jendso/bvab048.2058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089246/
http://dx.doi.org/10.1210/jendso/bvab048.2058

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