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Article

A Novel TSHR Gene Mutation in a Family with Non-autoimmune Hyperthyroidism.

Medical archives (Sarajevo, Bosnia and Herzegovina) - 1 Jan 2024

Kufoof Tamara, Luxford Catherine, Kannangara Kishani, Clifton-Bligh Roderick, Donaghue Kim C

Abstract excerpt

Background: Familial non-autoimmune hyperthyroidism is a rare disorder characterized by the absence of thyroid autoimmunity, particularly TSH receptor antibody [TRAb]. Objective: The aim of this study was to describe a novel TSHR mutation identified in a family of two siblings and their father. Methods: Two siblings presented for endocrine assessment at ages 7 and 14 years with mild T3 toxicosis, and the father...

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Source

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Identifiers

PMID: 38566871
DOI: 10.5455/medarh.2024.78.154-158
PMCID: PMC10983094

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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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