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Comprehensive Analysis of Clinical Features in Index Cases With Multiple Endocrine Neoplasia Type 1 Refine the Risk Rate for Detection of Mutation Distinguishing Negative-Mutation (Phenocopies) and Positive-Mutation Cases
Background: Index cases clinically diagnosed with multiple endocrine neoplasia type 1 (MEN1) are declared as MEN1 phenocopies if no germline MEN1 mutation is identified. In comparison with positive-mutation cases, most phenocopies have been diagnosed in older age, mainly by association of primary hy...
Autores principales: | Urtremari, Betsaida, Carvalho, Rafael A, Santana, Lucas S, Antonio, Louise V, Ribeiro, Flavio G, Lugeiro, Palloma C, Quedas, Elisangela P S, Lourenco Jr, Delmar M |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089159/ http://dx.doi.org/10.1210/jendso/bvab048.2075 |
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