Concept information
Término preferido
Thyroid Hormone Resistance Syndrome
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Tipo
-
mesh:Descriptor
Definición
- An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels.
Concepto genérico
Etiquetas alternativas
- Refetoff Syndrome
- Refetoff-DeWind-DeGroot Syndrome
En otras lenguas
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francés
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Syndrome de Refetoff
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Syndrome de Refetoff-DeWind-DeGroot
URI
http://data.loterre.fr/ark:/67375/JVR-KT92LN0B-2
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