Article
Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone.
Clinical endocrinology - 1 Mar 1993
Mixson A J, Renault J C, Ransom S, Bodenner D L, Weintraub B D
Abstract excerpt
OBJECTIVE: We investigated whether the first patient (L-F3) reported as having selective pituitary resistance had a mutation in the hTR beta gene. We compared the clinical parameters of this case with those of patients with generalized resistance to thyroid hormone. DESIGN: The patient, L-F3, was part of a study at the NIH to identify mutations by sequencing the hTR beta gene in kindreds with thyroid hormone...
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