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Article

Variable phenotype associated with Ser505Asn-activating thyrotropin-receptor germline mutation.

Thyroid : official journal of the American Thyroid Association - 1 Aug 1999

Führer D, Mix M, Wonerow P, Richter I, Willgerodt H, Paschke R

Abstract excerpt

Constitutively activating thyrotropin-receptor (TSHR) germline mutations have been identified as a molecular cause of hereditary nonautoimmune hyperthyroidism. To date, seven cases of familial and six cases of sporadic nonautoimmune hyperthyroidism have been described associated with 13 different TSHR germline mutations, with a variable clinical course. We report the case of a 12.3-year-old girl with a history of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10482366
DOI: 10.1089/thy.1999.9.757

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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