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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Endocr Soc
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2021
Pynciau:
Tumor Biology
Mynediad Ar-lein: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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