Article
Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management.
Hormones (Athens, Greece) - 1 Jan 2000
Raue Friedhelm, Frank-Raue Karin
Abstract excerpt
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant tumour syndrome caused by germline activating mutations of the RET proto-oncogene. It has a strong penetrance of medullary thyroid carcinoma (MTC) and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism (MEN2A) within a single patient or family. Based on the phenotype three distinct clinical forms have been...
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