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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Detalles Bibliográficos
Autores principales: Chaves, Carolina, Chaves, Mariana, Pereira, Bernardo, Silva, David, Saramago, Ana, Leite, Valeriano, Cavaco, Branca, Anselmo, Joao D T S, Cesar, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Genetics and Development (including Gene Regulation)
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554855/
http://dx.doi.org/10.1210/js.2019-OR15-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6554855/
http://dx.doi.org/10.1210/js.2019-OR15-3

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