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

Abstract 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...

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Main Authors: Bo-Young Kim (Author), Mi-Hyun Park (Author), Hae-Mi Woo (Author), Hye-Yeong Jo (Author), Ji Hoon Kim (Author), Hyung Jin Choi (Author), Soo Kyung Koo (Author)
Format: Book
Published: BMC, 2017-10-01T00:00:00Z.
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