OR15-3 Extreme Phenotypic Variability of a Novel Mutation of MEN1 Gene in a Family with 14 Carriers across 3 Generations

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease characterized by the development of tumoral lesions usually benign in different glands. The most common tumors involve the parathyroid, pituitary and endocrine pancreas. Over 1300 mutations of MEN1 gene have been identified...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Chaves, Carolina, Chaves, Mariana, Pereira, Bernardo, Silva, David, Saramago, Ana, Leite, Valeriano, Cavaco, Branca, Anselmo, Joao D T S, Cesar, Rui
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Genetics and Development (including Gene Regulation)
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6554855/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR15-3
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