Article
The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A.
The Journal of clinical endocrinology and metabolism - 1 Sept 2010
Schulte Klaus-Martin, Machens Andreas, Fugazzola Laura, McGregor Alan, Diaz-Cano Salvador, Izatt Louise, Aylwin Simon, Talat Nadia, Beck-Peccoz Paolo, Dralle Henning
Abstract excerpt
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...
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