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Fig. 1 | BMC Medical Genetics

Fig. 1

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

Fig. 1

Case subject. a Neck computed tomography (CT) scan: Heterogeneous enhancing mass with cystic changes in both paratracheal (right 1.5 cm, left 2.2 cm) and parathyroid adenomas. b Abdominal CT: About a 1.6-cm well-defined enhancing mass at the head of the pancreas; R/O endocrine tumor. c Sellar magnetic resonance imaging: Normal pituitary. d Sestamibi parathyroid scan: Multiple parathyroid adenoma. e Endoscopic ultrasound and fine need aspiration: About a 1.6-cm-sized round hypoechoic homogenous mass at the pancreatic head. Immunohistochemistry: Ki-67 index <1%, P53: (−), synaptophysin: (+), neuroendocrine tumor. f KUB X-ray: Huge calyceal stones, Rt. kidney. g Pedigree of the patient with multiple endocrine neoplasia type1 (MEN1). The affected subject is indicated by the arrow. h Novel germline mutation in the MEN1 gene. Sanger sequence of MEN1 codons 462 in a wild-type subject and patient are shown and confirmed the c.1382_1383delAG mutation. Mutated residue is indicated by an asterisk, and the encoded amino acids are shown as single-letter code

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