Article
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
The Journal of clinical investigation - 15 Jun 1997
Abramowicz M J, Duprez L, Parma J, Vassart G, Heinrichs C
Abstract excerpt
Thyroid gland agenesis is the most common cause of congenital hypothyroidism and is usually sporadic. We investigated a brother and sister from consanguineous parents, ascertained through systematic newborn screening, and initially diagnosed with thyroid agenesis. Careful cervical ultrasonography...
Topics
- Base Sequence
- Binding Sites
- Congenital Hypothyroidism
- Consanguinity
- Female
- Flow Cytometry
- Homozygote
- Humans
- Hypothyroidism
- Infant, Newborn
- Male
- Mutation
- Pedigree
- Receptors, Thyrotropin
- Second Messenger Systems
- Thyroid Gland
- Thyrotropin
- Transfection