Cargando…
Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors
Genetic defects of the TSH receptor (TSHR) signaling pathway cause a form of congenital hypothyroidism (CH) known as TSH resistance. Consistent with the physiological understanding that thyroidal iodine uptake is up-regulated by TSHR signaling, most patients with TSH resistance have low to normal th...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Japanese Society for Pediatric Endocrinology
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073063/ https://www.ncbi.nlm.nih.gov/pubmed/30083029 http://dx.doi.org/10.1297/cpe.27.123 |