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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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| Publicat a: | J Clin Endocrinol Metab |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Endocrine Society
2017
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| Matèries: | |
| Accés en línia: | 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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