Article
Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.
The Journal of clinical endocrinology and metabolism - 1 Nov 1991
Ono S, Schwartz I D, Mueller O T, Root A W, Usala S J, Bercu B B
Abstract excerpt
Generalized resistance to thyroid hormones (GRTH) commonly results from mutations in the T3-binding domain of the c-erbA beta thyroid hormone receptor gene. We have reported on a novel deletion mutation in c-erbA beta in a kindred, S, with GRTH. One patient from this kindred was the product of a consanguineous union from two affected members and was homozygous for the beta-receptor defect. This patient at 3.5...
Topics
- Adolescent
- Adult
- Cells, Cultured
- Child, Preschool
- Chromosome Deletion
- DNA
- DNA Restriction Enzymes
- Female
- Homozygote
- Humans
- Infant