ArticleJournal of clinical research in pediatric endocrinology2025
Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta
Article in Journal of clinical research in pediatric endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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12 authors.
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Abstract
Objective: Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The present study aimed to evaluate the clinical and laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ. Methods: Patients who underwent a THRβ gene analysis between September 2019 and September 2023 were retrospectively reviewed. Results: Fifty patients with the clinical features of RTHβ syndrome or a family history of an index case were included. A total of eight different heterozygous pathogenic/likely pathogenic missense variants, three of which were novel, were detected in Conclusion: The present study provides an overview of clinical and genetic characteristics of patients with genetically confirmed RTHβ and expanded the
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