Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old

Abstract excerpt

Despite its identification in 1997, the functions of the MEN1 gene—the main gene underlying multiple endocrine neoplasia type 1 syndrome—are not yet fully understood. In addition, unlike the RET —MEN2 causative gene—no hot-spot mutational areas or genotype–phenotype correlations have been identified. More than 1,300 MEN1 gene mutations have been reported and are mostly "private” (family specific). Even when...

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