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 β-subunit of thyrotropin (TSHB). The TSHB mutation C105Vfs114X leads to isolated thyroid-stimulating-hormone-(TSH)-deficiency and results in a severe phenotype. The aim of this...

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Detalles Bibliográficos
Autores principales: Kalveram, Laura, Kleinau, Gunnar, Szymańska, Kamila, Scheerer, Patrick, Rivero-Müller, Adolfo, Grüters-Kieslich, Annette, Biebermann, Heike
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888357/
https://www.ncbi.nlm.nih.gov/pubmed/31703413
http://dx.doi.org/10.3390/ijms20225564

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888357/
https://www.ncbi.nlm.nih.gov/pubmed/31703413
http://dx.doi.org/10.3390/ijms20225564

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