Article
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH.
The Journal of clinical endocrinology and metabolism - 1 Apr 1997
Clifton-Bligh R J, Gregory J W, Ludgate M, John R, Persani L, Asteria C, Beck-Peccoz P, Chatterjee V K
Abstract excerpt
The TSH receptor is a G protein-coupled receptor that mediates the effects of TSH in thyroid development, growth, and synthetic function. We report here that a child with features of TSH resistance, including markedly increased serum TSH concentrations and low normal thyroid hormone levels, is a compound heterozygote for two novel mutations in the TSH receptor gene. One allele has a G to A transition...
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