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Article

Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.

The Journal of clinical endocrinology and metabolism - 1 Nov 2011

Narumi Satoshi, Muroya Koji, Asakura Yumi, Aachi Masanori, Hasegawa Tomonobu

Abstract excerpt

CONTEXT: Inborn errors of thyroid hormone biosynthesis are collectively referred to as thyroid dyshormonogenesis (DH). Seven genes have been implicated in DH, including the dual oxidase 2 gene (DUOX2), the thyroglobulin gene (TG), and the thyroid peroxidase gene (TPO). OBJECTIVE: We aimed to define the prevalence and phenotypic spectrum of DH with single gene mutations. SUBJECTS AND METHODS: A population-based...

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Source

Identifiers

PMID: 21900383
DOI: 10.1210/jc.2011-1573

Genes

DUOX2
TPO

Variants

rs57659670

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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