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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
  • +1
  • Paula Molina ,
  • Ernesto Ruiz,
  • Ramses Badilla Porras,
  • Giovanni Sedó
Paula Molina
CCSS

Corresponding Author:[email protected]

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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:ACCEPTED

27 May 2020Submitted to Clinical Case Reports
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20 Jun 2020Submission Checks Completed
20 Jun 2020Assigned to Editor
09 Jul 2020Reviewer(s) Assigned
03 Aug 2020Review(s) Completed, Editorial Evaluation Pending
14 Aug 2020Editorial Decision: Revise Minor
23 Nov 20201st Revision Received
15 Oct 2022Assigned to Editor
15 Oct 2022Submission Checks Completed
19 Oct 2022Review(s) Completed, Editorial Evaluation Pending
30 Oct 2022Reviewer(s) Assigned
10 Nov 2022Editorial Decision: Revise Minor
27 Jan 20232nd Revision Received
28 Jan 2023Assigned to Editor
28 Jan 2023Submission Checks Completed
28 Jan 2023Review(s) Completed, Editorial Evaluation Pending
14 Feb 2023Editorial Decision: Accept