A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of the hyperthyroid symptoms is variable and phenotype differences have been described in sub...

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Detalles Bibliográficos
Autores principales: Larsen, Cæcilie C, Karaviti, Lefkothea P, Seghers, Victor, Weiss, Roy E, Refetoff, Samuel, Dumitrescu, Alexandra M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396564/
https://www.ncbi.nlm.nih.gov/pubmed/25873976
http://dx.doi.org/10.1186/1687-9856-2014-23

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396564/
https://www.ncbi.nlm.nih.gov/pubmed/25873976
http://dx.doi.org/10.1186/1687-9856-2014-23

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