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Phenotype and genotype of patients with multiple endocrine neoplasia type 1 studied in Argentina.

Medicina - 1 Jan 2024

Fainstein-Day Patricia, Serra Maria Pía, Fernandez Gianotti Tomás, Bosco María Belén, Bell Soledad, Vial María Lorena

Abstract excerpt

INTRODUCTION: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are parathyroid glands (HPT), gastroenteropancreatic tract (GEPT), and anterior pituitary gland (PT). The aim of our investigation was to describe the phenotype and genotype of Argentinian patients with MEN1. METHODS: A total of 68 index...

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PMID: 38907957

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