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Article

Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.

Clinical genetics - 1 Dec 2021

Sun Feng, Zhang Rui-Jia, Cheng Feng, Fang Ya, Yang Rui-Meng, Ye Xiao-Ping, Han Bing, Zhao Shuang-Xia, Dong Mei, Song Huai-Dong

Abstract excerpt

DUOX2 is the most frequently mutated gene in patients with congenital hypothyroidism (CH) in China. However, no reliable genotype-phenotype relationship has been found in patients with DUOX2 mutations. In this study, DUOX2 mutations were screened in 266 CH patients, and the enzymatic activity of 89 DUOX2 variants was determined in vitro. Furthermore, the DUOX2 residual activity in 76 CH patients caused by DUOX2...

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Identifiers

PMID: 34564849
DOI: 10.1111/cge.14065

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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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