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Article

Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism.

Molecular and cellular endocrinology - 30 Jun 2010

Gozu Hulya Iliksu, Lublinghoff Julia, Bircan Rifat, Paschke Ralf

Abstract excerpt

TSH receptor (TSHR) germline mutations occur as activating mutations in familial non-autoimmune hyperthyroidism (FNAH) or sporadic non-autoimmune hyperthyroidism (SNAH). Up to date 17 constitutively activating TSHR mutations have been reported in 24 families with FNAH. The diagnosis of FNAH should be considered in cases with a positive family history, early onset of hyperthyroidism, goiter, absence of clinical...

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Source

Identifiers

PMID: 20138963
DOI: 10.1016/j.mce.2010.02.001

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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