Article
Molecular diagnosis and characterization of thyroid hormone resistance syndromes.
Thyroid : official journal of the American Thyroid Association - 1 Jan 1991
Usala S J
Abstract excerpt
The genetic basis of generalized resistance to thyroid hormones (GRTH) is now well understood. In the majority of patients, diverse mutations in the T3-binding domain of the c-erbA beta thyroid hormone receptor gene result in variable clinical presentations. These mutations are dominant negative...
Topics
- Base Sequence
- Child
- Chromosome Mapping
- Humans
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Proto-Oncogene Proteins
- Receptors, Thyroid Hormone
- Thyroid Hormones
- Thyrotropin
- Triiodothyronine