Associated Papers
An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone.
Alberobello AT et al.
Journal of Translational Medicine, 2011
Phenotypic variability in patients with generalised resistance to thyroid hormone.
Pohlenz J et al.
Journal of Medical Genetics, 1995
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.
Adams M et al.
The Journal of Clinical Investigation, 1994
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