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Article

Genetic defects, thyroid growth and malfunctions of the TSHR in pediatric patients.

Frontiers in bioscience (Landmark edition) - 1 Jun 2010

Biebermann Heike, Winkler Franziska, Kleinau Gunnar

Abstract excerpt

Naturally occurring activating and inactivating mutations of the thyrotropin receptor (TSHR) were found as a molecular cause of diseases in patients suffering from non-autoimmune hyperthyroidism and syndromes of thyrotropin resistance, respectively. These mutations are mostly functionally characterized in vitro and therefore, they represent an excellent tool to study structure-function relationships of this...

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Source

Identifiers

PMID: 20515734
DOI: 10.2741/3654

Genes

TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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