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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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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2011
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| Assuntos: | |
| Acesso em linha: | 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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