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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...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8089159/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab048.2075
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