Article
Phenotypic variability in patients with generalised resistance to thyroid hormone.
Journal of medical genetics - 1 May 1995
Pohlenz J, Wirth S, Winterpacht A, Wemme H, Zabel B, Schönberger W
Abstract excerpt
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...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Female
- Genetic Heterogeneity
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Point Mutation
- Receptors, Thyroid Hormone
- Thyroid Function Tests
- Thyroid Hormone Resistance Syndrome
- Thyroid Hormones