Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozygous germline inactivating mutation in the MEN1 gene (first hit) may be followe...

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Autores principales: Kim, Bo-Young, Park, Mi-Hyun, Woo, Hae-Mi, Jo, Hye-Yeong, Kim, Ji Hoon, Choi, Hyung Jin, Koo, Soo Kyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625714/
https://www.ncbi.nlm.nih.gov/pubmed/28969599
http://dx.doi.org/10.1186/s12881-017-0465-9

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