Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

doi:10.1007/s12020-018-1566-8

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Article

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database.

Endocrine - 1 Oct 2018

Marini Francesca, Giusti Francesca, Fossi Caterina, Cioppi Federica, Cianferotti Luisella, Masi Laura, Boaretto Francesca, Zovato Stefania, Cetani Filomena, Colao Annamaria, Davì Maria Vittoria, Faggiano Antongiulio, Fanciulli Giuseppe, Ferolla Piero, Ferone Diego, Loli Paola, Mantero Franco, Marcocci Claudio, Opocher Giuseppe, Beck-Peccoz Paolo, Persani Luca, Scillitani Alfredo, Guizzardi Fabiana, Spada Anna, Tomassetti Paola, Tonelli Francesco, Brandi Maria Luisa

Abstract excerpt

PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is caused by germline inactivating mutations of the MEN1 gene. Currently, no direct genotype-phenotype correlation is identified. We aim to analyze MEN1 mutation site and features, and possible correlations between the mutation type and/or the affected menin functional domain and clinical presentation in patients from the Italian multicenter MEN1 database, one...

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PMID: 29497973
DOI: 10.1007/s12020-018-1566-8

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MEN1

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