Severe thyrotoxicosis in an infant revealing familial nonautoimmune hyperthyroidism with a novel (C672W) stimulating thyrotropin receptor germline mutation

We describe severe thyrotoxicosis in young members of a family with nonautoimmune hyperthyroidism caused by a C672W germline mutation in exon 10 of TSHR gene. In this family, lack of genotype‐phenotype correlation and anticipation across generations could be linked to an increased iodine intake as r...

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Detalles Bibliográficos
Autores principales: Oliver‐Petit, Isabelle, Savagner, Frédérique, Grunenwald, Solange, Vialon, Magaly, Edouard, Thomas, Caron, Philippe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715599/
https://www.ncbi.nlm.nih.gov/pubmed/29225840
http://dx.doi.org/10.1002/ccr3.1178

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5715599/
https://www.ncbi.nlm.nih.gov/pubmed/29225840
http://dx.doi.org/10.1002/ccr3.1178

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