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Homozygous Thyroid Hormone Receptor β-Gene Mutations in Resistance to Thyroid Hormone: Three New Cases and Review of the Literature

CONTEXT: The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone receptor β (THRB) gene mutations. Homozygous mutations in the THRB gene are a rare event. OBJECTIVE: In this study, the clinical findings of three new patients (belonging to two families) homozygous...

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Bibliografiske detaljer
Main Authors: Ferrara, Alfonso Massimiliano, Onigata, Kazumichi, Ercan, Oya, Woodhead, Helen, Weiss, Roy E., Refetoff, Samuel
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2012
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3319181/
https://ncbi.nlm.nih.gov/pubmed/22319036
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2011-2642
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