Article
A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.
The Journal of clinical endocrinology and metabolism - 1 Jun 1996
de Roux N, Polak M, Couet J, Leger J, Czernichow P, Milgrom E, Misrahi M
Abstract excerpt
Until recently, neonatal hyperthyroidism has been considered to be related to the transplacental passage of thyroid-stimulating Ig present in the serum of the mother. We report here the case of a newborn who presented with severe hyperthyroidism, diffuse goiter, and important ocular signs (eyelid...
Topics
- Amino Acid Sequence
- Base Sequence
- Cell Line
- Cyclic AMP
- Humans
- Hyperthyroidism
- Infant, Newborn
- Male
- Molecular Probes
- Molecular Sequence Data
- Mutation
- Receptors, Thyrotropin
- Thyrotropin
- Tomography, X-Ray Computed
- Transfection