ArticleWorld journal of clinical cases2019
Novel frameshift mutation causes early termination of the thyroxine-binding globulin protein and complete thyroxine-binding globulin deficiency in a Chinese family: A case report.
Article in World journal of clinical cases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Identification of recurrent pathogenic SERPINA7 mutation causing coexistence of TBG-CD and hypothyroidism in Indian pedigrees: in Silico structural analysis of mutant TBG and literature reappraisal.Thyroid research · 2026Article
- Partial Thyroid Hormone-Binding Globulin Deficiency: A Case Report and Literature Review.Diabetes, metabolic syndrome and obesity : targets and therapy · 2023Article
- Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.Endocrinology and metabolism (Seoul, Korea) · 2022Article
- Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function.Journal of endocrinological investigation · 2022Article
- Compound hemizygous variants in SERPINA7 gene cause thyroxine-binding globulin deficiency.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThyroxine-binding globulin (TBG; the gene product of CASE SUMMARY: A 46-year-old Chinese man was referred to our hospital with normal free thyroxine, free triiodothyronine, thyrotropin, but lower total thyroxine and total triiodothyronine, and undetectable serum TBG, indicative of TBG-CD. Blood samples were obtained from the patient's family members and thyroid function and serum TBG were evaluated. Genomic DNA from peripheral blood was sequenced to detect possible
conclusionA novel mutation in the
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