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A Novel Pathogenic MEN1 Gene Variant Identified in a Family With Multiple Pancreatic Neuroendocrine Tumors

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine tumor syndrome caused by pathogenic variants in the MEN1 gene, and most patients with this syndrome initially develop primary hyperparathyroidism (PHPT). Here, we report the case of a family wherein a germline MEN1 variant was dete...

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Detalles Bibliográficos
Autores principales: Horikoshi, Hirofumi, Arita, Junichi, Hasegawa, Kiyoshi, Makita, Noriko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580482/
https://www.ncbi.nlm.nih.gov/pubmed/37908584
http://dx.doi.org/10.1210/jcemcr/luad078