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The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A

Schulte, Klaus-Martin; Machens, Andreas; Fugazzola, Laura; McGregor, Alan; Diaz-Cano, Salvador J.; Izatt, Louise; Aylwin, Simon; Talat, N.; Beck-Peccoz, Paolo; Dralle, Henning

Description

Background: Germline missense mutations of the RET protooncogene cause a clinical spectrum called multiple endocrine neoplasia (MEN) type 2. A strong genotype-phenotype correlation results in major implications for the clinical approach. More information on less common mutations is needed to advance specific guidance. Patients and Methods: We report individualized patient information on 36 carriers of the intracellular RET gene mutation S891A from three centers and clustered data of 38...[Show more]

CollectionsANU Research Publications
Date published: 2010
Type: Journal article
URI: http://hdl.handle.net/1885/260159
Source: Journal of Clinical Endocrinology and Metabolism
DOI: 10.1210/jc.2010-0375

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