The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR

(1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the &#946;-subunit of thyrotropin (<i>TSHB</i>). The <i>TSHB</i> mutation C105Vfs114X leads to isolated thyroid-stimulating-hormone-(TSH)-deficiency and...

Full description

Bibliographic Details
Main Authors: Laura Kalveram, Gunnar Kleinau, Kamila Szymańska, Patrick Scheerer, Adolfo Rivero-Müller, Annette Grüters-Kieslich, Heike Biebermann
Format: Article
Published: MDPI AG 2019-11-01
Series:International Journal of Molecular Sciences
Online Access: