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Novel mutation c.1224_1225insGTCC (p.Cys409Valfs*41) of MEN1 gene in a multiple endocrine neoplasia type 1 case with insulinoma and primary hyperparathyroidism: first report of a Costa Rican case
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  • Paula Molina ,
  • Ernesto Ruiz,
  • Ramses Badilla Porras,
  • Giovanni Sedó
Paula Molina
CCSS
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Ernesto Ruiz
CCSS
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Ramses Badilla Porras
National Children's Hospital
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Giovanni Sedó
CCSS
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Abstract

Abstract Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with tumor predisposition in the parathyroid gland, anterior hypophysis and pancreatic islet cells. Here we describe the first Costa Rican MEN1 case with a novel MEN1 mutation in a 37-year-old male with history of nephrolithiasis and recurrent hypoglycemia

Peer review status:UNDER REVIEW

27 May 2020Submitted to Clinical Case Reports
20 Jun 2020Assigned to Editor
20 Jun 2020Submission Checks Completed
09 Jul 2020Reviewer(s) Assigned
03 Aug 2020Review(s) Completed, Editorial Evaluation Pending