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Article

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.

Endocrine journal - 29 Oct 2018

Long Wei, Lu Guanting, Zhou Wenbai, Yang Yuqi, Zhang Bin, Zhou Hong, Jiang Lihua, Yu Bin

Abstract excerpt

To identify the spectrum and prevalence of thirteen causative genes mutations in congenital hypothyroidism (CH) patients, we collected blood samples and extracted genomic DNA of 106 CH patients, and designed a customized targeted next-generation sequencing panel containing 13 CH-causing genes to detect mutations. A total of 132 mutations were identified in 65.09% of patients (69/106) on the following nine genes:...

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Source

Identifiers

PMID: 30022773
DOI: 10.1507/endocrj.EJ18-0156

Genes

DUOX2
TSHR
GNAS
PAX8
TPO
TTF1
TTF2
IYD
THRA
TSHB

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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