An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone

BACKGROUND: The syndrome of resistance to thyroid hormone (RTH) is caused by mutations in the thyroid hormone receptor β gene (THRB). The syndrome varies from asymptomatic to diffuse hypothyroidism, to pituitary-selective resistance with predominance of hyperthyroid signs and symptoms. The wide spec...

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Hlavní autoři: Alberobello, Anna Teresa, Congedo, Valentina, Liu, Hong, Cochran, Craig, Skarulis, Monica C, Forrest, Douglas, Celi, Francesco S
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2011
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3170239/
https://ncbi.nlm.nih.gov/pubmed/21871106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1479-5876-9-144
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