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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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| Publicat a: | J Endocr Soc |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2021
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| Matèries: | |
| Accés en línia: | 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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