Article
Molecular diagnosis of multiple endocrine neoplasia Type 2.
Expert review of molecular diagnostics - 1 Nov 2003
Bugalho Maria João, Domingues Rita, Sobrinho Luís
Abstract excerpt
Multiple endocrine neoplasia Type 2 is a rare familial cancer syndrome transmitted in an autosomal dominant manner. It is characterized by the association of medullary thyroid carcinoma with pheochromocytoma and hyperparathyroidism. Medullary thyroid carcinoma, present in virtually all patients, is the principal cause of death. In 1993, germline mutations in the RET proto-oncogene were identified as the...
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