Associated Papers
A Variant in the TSH β Gene Resulted in Discordant TSH Levels in an Indian Patient.
Gera P et al.
Ejifcc, 2026
Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.
Khan TN et al.
Human Mutation, 2025
40860288 (PubMed )
Supplement: 5530710.f1.zip › Khan_et_al__Supplementary_Table_3_R3_ES.pdf
Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH.
Moran C et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews.
Shaki D et al.
European Thyroid Journal, 2022
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM et al.
American Journal of Human Genetics, 2019
Recent advances in central congenital hypothyroidism.
Schoenmakers N et al.
The Journal of Endocrinology, 2015
A TSHβ Variant with Impaired Immunoreactivity but Intact Biological Activity and Its Clinical Implications.
Pappa T et al.
Thyroid : Official Journal of the American Thyroid Association, 2015
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