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Multiple endocrine neoplasia type 1: a new germline “homozygous” variant (c.201delC) caused by detection errors

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline variants in the MEN1 gene located on chromosome 11q13. We found a Chinese woman who had a pancreatic tumor, parathyroid tumor, adrenal tumor, and suspicion of gastrinoma. CASE PRESENTATION: The...

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Detalles Bibliográficos
Autores principales:	Zhang, Fan, Yu, Xiaohui, Wang, Xiaoli, Shao, Hua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900317/ https://www.ncbi.nlm.nih.gov/pubmed/35255927 http://dx.doi.org/10.1186/s13053-022-00216-2

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