Discover Community Create You

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

DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.

Frontiers in endocrinology - 1 Jan 2020

Wang Fengqi, Zang Yucui, Li Miaomiao, Liu Wenmiao, Wang Yangang, Yu Xiaolong, Li Hua, Wang Fang, Liu Shiguo

Abstract excerpt

Background: Thyroid dysgenesis (TD), which is caused by gland developmental abnormalities, is the most common cause of congenital hypothyroidism (CH). In addition, advances in diagnostic techniques have facilitated the identification of mild CH patients with a gland-in-situ (GIS) with normal thyroid morphology. Therefore, TD and GIS account for the vast majority of CH cases. Methods: Sixteen known genes to be...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Hypothyroidism

Share to Dual Oxidases

Share to High-Throughput Nucleotide Sequencing

Share to Membrane Proteins

Share to Prognosis

Share to Thyroid Dysgenesis

Source

Open in PubMed Open full text

Identifiers

PMID: 32425884
DOI: 10.3389/fendo.2020.00237
PMCID: PMC7212429

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.PMID 32425884Read ↗

DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.Semantic proximity Read ↗

Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.Semantic proximity Read ↗

Clinical and genetic investigation in patients with permanent congenital hypothyroidism.Semantic proximity Read ↗

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.Semantic proximity Read ↗

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.Semantic proximity Read ↗

Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing.Semantic proximity Read ↗

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.Semantic proximity Read ↗

DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patientsSemantic proximity Read ↗

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.Semantic proximity Read ↗

Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience.Semantic proximity Read ↗

Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China.Semantic proximity Read ↗

Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.Semantic proximity Read ↗

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