- Article
Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR)
- Diego Yeste,
- Noelia Baz-Redón,
- María Antolín,
- Elena Garcia-Arumí,
- Eduard Mogas,
- Ariadna Campos-Martorell,
- Núria González-Llorens,
- Cristina Aguilar-Riera,
- Laura Soler-Colomer and
- Núria Camats-Tarruella
- + 2 authors
Genetic defects in the TSH receptor (TSHR) can cause poor thyroid differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis). The phenotype spectrum is wide: from severe congenital hypothyroidism to mild hyperthyrotro...