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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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
Tumor Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8089246/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.2058
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