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A clinician’s guide to understanding resistance to thyroid hormone due to receptor mutations in the TRα and TRβ isoforms

There are two genes that express the major thyroid hormone receptor isoforms. Mutations in both these genes have given rise to Resistance to Thyroid Hormone (RTH) syndromes (RTHβ, RTHα) that can have variable phenotypes for mutations of the same receptor isoform as well as between the two receptor i...

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Detalles Bibliográficos
Autores principales: Singh, Brijesh K., Yen, Paul M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603052/
https://www.ncbi.nlm.nih.gov/pubmed/28932413
http://dx.doi.org/10.1186/s40842-017-0046-z