ArticleFrontiers in endocrinology2021
Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.
Article in Frontiers in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
7 citing papers in PubMed, 11 citations in OpenAlex.
- Analysis of epidemiological characteristics and associated factors of congenital hypothyroidism in Henan Province.Scientific reports · 2026Article
- Maternal TPO-Ab status modulates associations between gestational thyroid hormones and neonatal TSH in 10,154 Chinese mother-newborn pairs.Therapeutic advances in endocrinology and metabolism · 2026Article
- The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.Annals of medicine · 2025Review
- InvestigatingFrontiers in endocrinology · 2025Article
- rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation.Frontiers in genetics · 2025Article
- Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice.Frontiers in endocrinology · 2025Article
- Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.Frontiers in endocrinology · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The molecular etiology and the genotype-phenotype correlation of congenital hypothyroidism (CH) remain unclear. Methods: We performed genetic analysis in 42 newborns with CH using whole-exome sequencing. Patients were divided into a single-gene group and a multi-gene group according to the number of affected genes, or divided into a monoallelic group, a biallelic group, and an oligogenic group according to the pattern of the detected variants. The clinical characteristics were compared between groups. Results: Thyroid dysgenesis (TD) was observed in 10 patients and goiter in 5 patients, whereas 27 patients had normal-sized gland-in-situ (GIS). We identified 58 variants in five genes in 29 patients. The genes with the most frequent variants were Conclusions: Patients with normal-sized GIS accounted for the majority of our cohort. Genetic defects in the genes causing DH were more common than those in the genes causing TD, with biallelic variants in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.