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Novel Germline c.105_107dupGCT MEN1 Mutation in a Family with Newly Diagnosed Multiple Endocrine Neoplasia Type 1

In multiple endocrine neoplasia type 1 (MEN1), the causative MEN1 gene mutations lead to the reduced expression of menin, which is a tumor suppressor protein. In this study, we present a case of a 16-year-old woman with severe primary hyperparathyroidism and a non-functioning pituitary microadenoma....

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Detalles Bibliográficos
Autores principales: Stasiak, Magdalena, Dedecjus, Marek, Zawadzka-Starczewska, Katarzyna, Adamska, Emilia, Tomaszewska, Monika, Lewiński, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7565931/
https://www.ncbi.nlm.nih.gov/pubmed/32847108
http://dx.doi.org/10.3390/genes11090986