Resistance to thyroid hormone associated with a novel mutation of the thyroid β receptor gene in a four-year-old female

Resistance to thyroid hormone (RTH) is a rare syndrome of reduced responsiveness of target tissues to thyroid hormone and is caused mutation in the thyroid β receptor gene. We report a novel mutation, E445X, causing RTH in a 4-year old girl. The patient exhibited extreme signs and symptoms of RTH at...

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Hlavní autoři: Canadas, Karina T, Rivkees, Scott A, Udelsman, Robert, Breuer, Christopher K
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2011
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3159137/
https://ncbi.nlm.nih.gov/pubmed/21860630
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1687-9856-2011-3
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