Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors

Genetic defects of the TSH receptor (TSHR) signaling pathway cause a form of congenital hypothyroidism (CH) known as TSH resistance. Consistent with the physiological understanding that thyroidal iodine uptake is up-regulated by TSHR signaling, most patients with TSH resistance have low to normal th...

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Detalles Bibliográficos
Autores principales: Sugisawa, Chiho, Abe, Kiyomi, Sunaga, Yuka, Taniyama, Matsuo, Hasegawa, Tomonobu, Narumi, Satoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073063/
https://www.ncbi.nlm.nih.gov/pubmed/30083029
http://dx.doi.org/10.1297/cpe.27.123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073063/
https://www.ncbi.nlm.nih.gov/pubmed/30083029
http://dx.doi.org/10.1297/cpe.27.123

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