An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial non-autoimmune hyperthyroidism

An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial non-autoimmune hyperthyroidism

Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of non-autoimmune hyperthyroidism in a patient with TSHR mutation. Our patient...

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Bibliographic Details
Main Authors: Jung Hyun Shin, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung, Hye Young Kim, Young Mi Kim, Mi Hye Bae, Kyung Hee Park, Min Jung Kwak
Format: Article
Language:English
Published: Korean Society of Pediatric Endocrinology 2020-12-01
Series:Annals of Pediatric Endocrinology & Metabolism
Subjects:
congenital hyperthyroidism
nonautoimmune hyperthyroidism
tshr gene
whole-exome sequencing
Online Access:http://e-apem.org/upload/pdf/apem-2040076-038.pdf

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