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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
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Ernesto Ruiz
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Ramses Badilla Porras
National Children's Hospital
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Giovanni Sedó
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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:IN REVISION

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
14 Aug 2020Editorial Decision: Revise Minor
23 Nov 20201st Revision Received