Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq

CONTEXT: Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of thyroid-stimulating hormone (TSH) leading to low thyroid hormone synthesis. Thyrotropin-releasing hormone (TRH) receptor (TRHR) defects are rare recessive disorders...

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Vydáno v:J Clin Endocrinol Metab
Hlavní autoři: García, Marta, González de Buitrago, Jesús, Jiménez-Rosés, Mireia, Pardo, Leonardo, Hinkle, Patricia M., Moreno, José C.
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2017
Témata:
Clinical Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5505191/
https://ncbi.nlm.nih.gov/pubmed/28419241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-3977
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