Article
A new point mutation (C446R) in the thyroid hormone receptor-beta gene of a family with resistance to thyroid hormone.
The Journal of clinical endocrinology and metabolism - 1 May 1994
Weiss R E, Chyna B, Duell P B, Hayashi Y, Sunthornthepvarakul T, Refetoff S
Abstract excerpt
Resistance to thyroid hormone (RTH) is a condition of impaired end-organ responsiveness to thyroid hormone characterized by goiter and elevated thyroid hormone levels with an inappropriately normal TSH. RTH has been associated with mutations in the thyroid hormone receptor-beta (TR beta) gene. We...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Child
- Female
- Genotype
- Goiter
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Point Mutation
- Receptors, Thyroid Hormone
- Thyroid Hormones