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Article

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

Clinica chimica acta; international journal of clinical chemistry - 23 Oct 2015

Fu Chunyun, Chen Rongyu, Zhang Shujie, Luo Shiyu, Wang Jin, Chen Yun, Zheng Haiyang, Su Jiasun, Hu Xuyun, Fan Xin, Luo Jingsi, Yi Shang, Lai Yunli, Li Chuan, Xie Bobo, Shen Yiping, Gu Xuefan, Chen Shaoke

Abstract excerpt

BACKGROUND: The clinical presentation of patients with congenital hypothyroidism (CH) caused by paired box gene 8 (PAX8) pathogenic variants is variable and PAX8 mutation rates differ significantly among different populations. This study was set to examine the PAX8 mutation spectrum and prevalence among patients with CH in Guangxi Zhuang Autonomous Region, China. METHODS: Peripheral venous blood samples were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26362610
DOI: 10.1016/j.cca.2015.09.008

Genes

PAX8

Variants

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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