Article
Generalized thyroid hormone resistance due to a deletion of the carboxy terminus of the c-erbA beta receptor.
Molecular and cellular endocrinology - 1 Feb 1994
Groenhout E G, Dorin R I
Abstract excerpt
Generalized resistance to thyroid hormone (GRTH) is a disorder of thyroid hormone action which has been linked to the beta thyroid hormone receptor (TR beta) gene. A diverse array of TR beta mutations have been characterized, and these distinct genotypes have been associated with characteristic p...
Topics
- Adult
- Alleles
- Attention Deficit Disorder with Hyperactivity
- Chromosomes, Human, Pair 17
- DNA Mutational Analysis
- Diagnostic Errors
- Genes
- Goiter
- Graves Disease
- Hearing Loss, Sensorineural
- Humans
- Hyperthyroidism
- Intellectual Disability
- Male
- Point Mutation
- Protein Biosynthesis
- Receptors, Thyroid Hormone
- Sequence Deletion