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GUIZZARDI , Fabiana

Last name: GUIZZARDI

First name: Fabiana

2018 (v1)

Publication

Metadata-only

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

Marini, Francesca Giusti, Francesca Fossi, Caterina

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...

Uploaded on: April 14, 2023