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Bone phenotypes in multiple endocrine neoplasia type 1: survey on the MEN1 Florentine database

Francesca Marini

Francesca Marini Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy
F.I.R.M.O. Italian Foundation for the Research on Bone Diseases, Florence, Italy

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Francesca Giusti

Francesca Giusti Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

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Teresa Iantomasi

Teresa Iantomasi Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy

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Federica Cioppi

Federica Cioppi University Hospital of Florence, Azienda Ospedaliero Universitaria Careggi (AOUC), Florence, Italy

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Maria Luisa Brandi

Maria Luisa Brandi F.I.R.M.O. Italian Foundation for the Research on Bone Diseases, Florence, Italy

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in the exon 8 of the MEN1 gene. The cysteine to phenylalanine substitution at position 354 affects a central domain of menin protein presumably involved in the interaction with JunD ( 15 ), a component of the AP-1 transcription factor. WT menin