UMD-MEN1 Database: An Overview of the 370 MEN1 Variants Present in 1676 Patients From the French Population

Abstract excerpt

Context: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors. Objective: The aim of this work was to facilitate interpretation of variants and improve the genetic counseling and medical...

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