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Article

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

Thyroid : official journal of the American Thyroid Association - 1 Jan 2017

Srichomkwun Panudda, Takamatsu Junta, Nickerson Deborah A, Bamshad Michael J, Chong Jessica X, Refetoff Samuel

Abstract excerpt

Resistance to thyrotropin (TSH) (RTSH; defined by elevated TSH and a normal or hypoplastic thyroid gland) can be caused by mutations in genes encoding the TSH receptor and PAX8, and it has been linked to a locus on chromosome 15. In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of the RTSH phenotype, exome analysis identified five rare DUOX2 gene variants (p.A649E,...

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Source

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Identifiers

PMID: 27821020
DOI: 10.1089/thy.2016.0469
PMCID: PMC5206697

Genes

DUOX2
PAX8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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