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Article

Genotype-phenotype correlation in multiple endocrine neoplasia type 2

1 Apr 2012

Abstract excerpt

Multiple endocrine neoplasia type 2 is an autosomal-dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the rearranged during transfection proto-oncogene, which encodes the receptor tyrosine kinase, on chromosome 10. It has a strong penetrance of medullary thyroid carcinomas and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism. Multiple endocrine...

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PMID: 22584709
DOI: 10.6061/clinics/2012(sup01)13

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