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Advances in risk-oriented surgery for multiple endocrine neoplasia type 2

7 Sept 2017

Abstract excerpt

Genetic association studies hinge on definite clinical case definitions of the disease of interest. This is why more penetrant mutations were overrepresented in early multiple endocrine neoplasia type 2 (MEN2) studies, whereas less penetrant mutations went underrepresented. Enrichment of genetic association studies with advanced disease may produce a flawed understanding of disease evolution, precipitating...

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PMID: 28883084
DOI: 10.1530/erc-17-0202

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