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

• Hoofdauteurs: Bo-Young Kim (Auteur), Mi-Hyun Park (Auteur), Hae-Mi Woo (Auteur), Hye-Yeong Jo (Auteur), Ji Hoon Kim (Auteur), Hyung Jin Choi (Auteur), Soo Kyung Koo (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2017-10-01T00:00:00Z.
• Onderwerpen: article
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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...