Article
Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the thyroid hormone receptor beta gene.
The Journal of clinical investigation - 1 Aug 1994
Adams M, Matthews C, Collingwood T N, Tone Y, Beck-Peccoz P, Chatterjee K K
Abstract excerpt
Resistance to thyroid hormone (RTH), with elevated serum free thyroid hormones and nonsuppressed thyrotropin levels, is either relatively asymptomatic, suggesting a generalized disorder (GRTH) or associated with thyrotoxic features, indicating possible selective pituitary resistance (PRTH). 20 GRTH and 9 PRTH cases, sporadic or dominantly inherited, were analyzed. Affected individuals were heterozygous for single...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.