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Article

High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.

European journal of medical genetics - 1 Oct 2016

Jiang Hong, Wu Jinhua, Ke Shengzhong, Hu Yue, Fei Anxing, Zhen Yan, Yu Jin, Zhu Kuichun

Abstract excerpt

Congenial hypothyroidism (CH) is the most common congenital endocrine disease and is treatable when recognized early enough. We investigated the genetic variants in 12 children diagnosed with CH by newborn screening in Huangshi area central China. Twelve genes commonly involved in CH development were studied. Genomic DNA from peripheral blood was used to amplify all exons of the selected genes, and the...

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Source

Identifiers

PMID: 27498126
DOI: 10.1016/j.ejmg.2016.07.004

Genes

DUOX2
TPO

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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