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.

@article{Adams1994GeneticAO,
  title={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.},
  author={Maria Dawn Adams and Crystal Matthews and Trevor N. Collingwood and Yoshiko Tone and Paolo Beck-Peccoz and Kumar Krisna Chatterjee},
  journal={The Journal of clinical investigation},
  year={1994},
  volume={94 2},
  pages={506-15}
}
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 nucleotide substitutions in the thyroid hormone receptor beta gene, except for a… CONTINUE READING
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