Article
Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?
European journal of endocrinology - 24 May 2022
Coppin Lucie, Giraud Sophie, Pasmant Eric, Lagarde Arnaud, North Marie-Odile, Le-Collen Lauriane, Aubert Valérie, Mougel Grégory, Ladsous Miriam, Louboutin Alyzée, Brixi Hedia, Haissaguerre Magalie, Scheyer Nicolas, Klein Marc, Tabarin Antoine, Delemer Brigitte, Barlier Anne, Odou Marie-Françoise, Romanet Pauline
Abstract excerpt
MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of inactivating mutations in the tumor suppressor gene MEN1. More than 1300 different mutations have been identified in this gene. Mosaic MEN1 mutations have been previously described in only a few patients in the...
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