Article
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
The Journal of clinical endocrinology and metabolism - 1 Oct 1997
Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Grüters A
Abstract excerpt
The pathogenesis of congenital hypothyroidism due to thyroid dysgenesis is still unknown. A point mutation in the TSH receptor (TSHR) of the hypothyroid hyt/hyt mouse invoked the TSHR as a candidate gene for congenital hypothyroidism. Therefore, we screened for mutations in the TSHR gene in patie...
Topics
- Amino Acid Sequence
- Base Sequence
- Congenital Abnormalities
- Congenital Hypothyroidism
- Endocrine Glands
- Female
- Genome
- Humans
- Hypothyroidism
- Infant, Newborn
- Mutation
- Receptors, Thyrotropin