ReviewEuropean journal of human genetics : EJHG2009
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Review in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 2 of them syntheses that pooled it.
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
129 citing papers in PubMed, 2 syntheses or guidelines pooled it, 274 citations in OpenAlex.
- Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.Nature genetics · 2025Pooled it
- Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.Genes · 2022Pooled it
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report.International medical case reports journal · 2026Article
- Efficacy of long-acting growth hormone in Axenfeld-Rieger syndrome with a novel 3.824 Mb 4q25 deletion: a Case Report and systematic literature review.Frontiers in genetics · 2026Article
- Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report.Cureus · 2025Article
- Genetic characterization and functional analysis of novel PITX2 variants identified in Chinese families with Axenfeld-Rieger syndrome.Acta biochimica et biophysica Sinica · 2025Article
- Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies.Biomedicines · 2025Review
- Uncovering the molecular signature of feline diffuse iris melanoma through transcriptomic analysis of disease severity.Scientific reports · 2025Article
- Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome.Scientific reports · 2025Article
- Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.Ophthalmology and therapy · 2025Review
- Sequence Context-Agnostic TadA-Derived Cytosine Base Editors for Genome-Wide Editing in Zebrafish.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish.Nature communications · 2024Article
- Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.Japanese journal of ophthalmology · 2024Article
- UNC-30/PITX coordinates neurotransmitter identity with postsynaptic GABA receptor clustering.Development (Cambridge, England) · 2024Article
- Transcription regulation by long non-coding RNAs: mechanisms and disease relevance.Nature reviews. Molecular cell biology · 2024Review
- Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity.Investigative ophthalmology & visual science · 2024Article
- Genetic Aspects of Glaucoma: An Updated Review.Current molecular medicine · 2024Review
- Complex genomic rearrangement with deletion ofMolecular vision · 2024Review
- Axenfeld-Reiger syndrome: A search for the missing links.World journal of clinical cases · 2023Article
69 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, which encompasses a range of congential malformations affecting the anterior segment of the eye. ARS shows genetic heterogeneity and mutations of the two genes, PITX2 and FOXC1, are known to be associated with the pathogenesis. There are several excellent reviews dealing with the complexity of the phenotype and genotype of ARS. In this study, we will attempt to give a brief review of the clinical features and the relevant diagnostic approaches, together with a detailed review of published PITX2 and FOXC1 mutations.
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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.