Current Loss-of-Function Mutations in the Thyrotropin Receptor Gene: When to Investigate, Clinical Effects, and Treatment

Thyroid-stimulating hormone receptor (TSHR) loss-of-function (LOF) mutations lead to a wide spectrum of phenotypes, ranging from severe congenital hypothyroidism (CH) to mild euthyroid hyperthyrotropinemia. The degree of TSH resistance depends on the severity of the impairment of the receptor functi...

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Detalles Bibliográficos
Autores principales: Cassio, Alessandra, Nicoletti, Annalisa, Rizzello, Angela, Zazzetta, Emanuela, Bal, Milva, Baldazzi, Lilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2013
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608004/
https://www.ncbi.nlm.nih.gov/pubmed/23154162
http://dx.doi.org/10.4274/Jcrpe.864

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608004/
https://www.ncbi.nlm.nih.gov/pubmed/23154162
http://dx.doi.org/10.4274/Jcrpe.864

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