Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.

Yonsei medical journal - 1 Jul 2017

Zheng Xiao, Ma Shao Gang, Guo Man Li, Qiu Ya Li, Yang Liu Xue

Abstract excerpt

The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes. The two sisters with GCH were diagnosed with CH at neonatal screening and were enrolled in this study. The DUOX2,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to NADPH Oxidases
Share to Congenital Hypothyroidism
Share to Dual Oxidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family

Share to Heterozygote

Share to Infant, Newborn

Share to Membrane Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 28541007
DOI: 10.3349/ymj.2017.58.4.888
PMCID: PMC5447125

Genes

DUOX2
DUOXA2
TPO

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.PMID 28541007Read ↗

A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.Semantic proximity Read ↗

Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism.Semantic proximity Read ↗

Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.Semantic proximity Read ↗

A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism.Semantic proximity Read ↗

High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.Semantic proximity Read ↗

Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism.Semantic proximity Read ↗

The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou.Semantic proximity Read ↗

Novel genetic variants in the TPO gene cause congenital hypothyroidism.Semantic proximity Read ↗

High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.Semantic proximity Read ↗

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.Semantic proximity Read ↗

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.