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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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Detaylı Bibliyografya
Asıl Yazarlar: Kohn, Brenda, Grasberger, Helmut, Lam, Leslie L., Ferrara, Alfonso Massimiliano, Refetoff, Samuel
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Mary Ann Liebert, Inc. 2009
Konular:
Online Erişim: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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