ea0032s31.2 | Clinical impact of rare mutations in endocrinology | ECE2013
Calender Pr Alain
Multiple endocrine neoplasia type 1 (MEN1 OMIM 131100) is considered as the major hereditary syndrome predisposing to multifocal endocrine tumors and a broad spectrum of non-endocrine lesions. Since the cloning of the MEN1 gene in 1997, a large number of studies have shown the large diversity of germline mutations found in patients with a poor genotype phenotype correlation. Menin, the protein encoded by the MEN1 gene interacts with more than 30 nuclear/cellular ...