Article
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor.
The Journal of clinical endocrinology and metabolism - 1 Dec 1996
Weiss R E, Hayashi Y, Nagaya T, Petty K J, Murata Y, Tunca H, Seo H, Refetoff S
Abstract excerpt
Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone. To date, all individuals expressing the RTH phenotype have been found to harbor mutations in the thyroid hormone receptor beta (TR beta) gene that impair T3-mediated function. We desc...
Topics
- Child, Preschool
- Female
- Genetic Linkage
- Humans
- Mutation
- Receptors, Thyroid Hormone
- Thyroid Hormone Resistance Syndrome
- Thyroid Hormones