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Article

Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene.

Clinical endocrinology - 1 Apr 2009

Supornsilchai Vichit, Sahakitrungruang Taninee, Wongjitrat Nattakarn, Wacharasindhu Suttipong, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin receptor (TSHR) gene. PATIENTS: Three affected individuals from the same family (a father and his two children) were studied. Clinical and imaging findings were reviewed and compared. GENETIC ANALYSIS: Genomic DNA was extracted from peripheral...

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Source

Identifiers

PMID: 18681856
DOI: 10.1111/j.1365-2265.2008.03367.x

Genes

TSHR

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Source receipt: pubmed, retrieved 7 Sept 2026.

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