Associated Papers
A de novo pathogenic variant in TSHR expanding the phenotype of persistent sporadic congenital non-autoimmune hyperthyroidism: a case report and literature review.
Xu W et al.
Translational Pediatrics, 2025
TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review
Kayaş L et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
The Thyrotropin Receptor Mutation Database Update.
Stephenson A et al.
Thyroid : Official Journal of the American Thyroid Association, 2020
Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism.
Roberts SA et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
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