Abstract
Resistance to thyroid hormone alpha is an emerging syndrome, with up to now a limited number of published cases. Some features are common to most of the patients, but there is still some work to provide a comprehensive description of the full spectrum of the syndrome. A survey of the strategy to screen for and characterize the mutations in TR α gene is given.
Keywords:
Resistance to thyroid hormone; THRA gene; Thyroid hormone receptor mutation.
MeSH terms
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Animals
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Animals, Genetically Modified
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Biomarkers
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Child
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Computational Biology / methods
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DNA Mutational Analysis
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Disease Models, Animal
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Female
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Genetic Association Studies / methods
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Genetic Predisposition to Disease
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Genetic Testing
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Humans
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Mutation*
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Thyroid Hormone Receptors alpha / genetics*
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Thyroid Hormone Receptors alpha / metabolism
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Thyroid Hormone Resistance Syndrome / diagnosis
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Thyroid Hormone Resistance Syndrome / genetics*
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Thyroid Hormone Resistance Syndrome / metabolism
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Thyroid Hormones / blood
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Thyroid Hormones / metabolism
Substances
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Biomarkers
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Thyroid Hormone Receptors alpha
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Thyroid Hormones