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A Somatic Gain-of-Function Mutation in the Thyrotropin Receptor Gene Producing a Toxic Adenoma in an Infant

BACKGROUND: Activating mutations of the thyroid stimulating hormone receptor gene (TSHR) are rare in the neonate and in the pediatric population. They are usually present in the germline, and are either inherited or occur de novo. Somatic mutations in TSHR are unusual in the pediatric population. ME...

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Detalhes bibliográficos
Main Authors: Kohn, Brenda, Grasberger, Helmut, Lam, Leslie L., Ferrara, Alfonso Massimiliano, Refetoff, Samuel
Formato: Artigo
Idioma:Inglês
Publicado em: Mary Ann Liebert, Inc. 2009
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2858372/
https://ncbi.nlm.nih.gov/pubmed/19191749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2008.0302
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