Phenotypic variability in patients with generalised resistance to thyroid hormone.
case_report · Level V
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- Record sourced from PubMed, PMID 7616549.
- Also identified by PMC identifier 1050437.
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Abstract
Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.
Medical subject headings
- Receptors, Thyroid Hormone
- Thyroid Hormone Resistance Syndrome