Multiple endocrine neoplasia 2A due to a unique C609S <i>RET</i> mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma

Abstract

The identification of a new mutation causing a MEN 2A phenotype that features pheochromocytoma and the surprising absence of clinically apparent MTC has significant implications for carriers of this mutation and provides further insights into the genotype-phenotype correlation in MEN 2A.