Axenfeld Rieger Syndrome Presenting with Open Angle Glaucoma in an Adult Patient: A Case Report.

Expanding the Phenotypic Spectrum of FOXC1-Related Axenfeld-Rieger Syndrome Type 3: A Case Report.

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

A Case Report on Glaucoma and Anterior Segment Abnormalities in Axenfeld-Rieger Syndrome.

Axenfeld-Rieger Syndrome in an Infant.

Axenfeld-Rieger Syndrome: From Zebrafish Models to Clinical Outcomes.

Surgical Outcomes in Axenfeld-Rieger Syndrome: A Multicenter Retrospective Analysis.

Genetic characterization and functional analysis of novel PITX2 variants identified in Chinese families with Axenfeld-Rieger syndrome.

Cataract Surgery Outcomes in Patients With Axenfeld-Rieger Syndrome.

A case of Axenfeld-Rieger syndrome with neuroradiological abnormalities.

A Tree Inside the Eye: A Presenting Feature of Axenfeld-Rieger Syndrome.

Sulcus Tube in a Patient with Axenfeld-Rieger Syndrome.

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus.

Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome.

Association of Maternal Exposure to Fine Particulate Matter During Pregnancy with Anterior Segment Dysgenesis Risk: A Matched Case-Control Study.

Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.

Sequence Context-Agnostic TadA-Derived Cytosine Base Editors for Genome-Wide Editing in Zebrafish.

Complex genomic rearrangement with deletion of PITX2 in a Chinese family with Axenfeld-Rieger syndrome: A case report and literature review.

Exome sequencing identifies existing and novel variants in a South African cohort presenting with anterior segment dysgenesis.

19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.

Clinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.

Tube Insertion of Ahmed Glaucoma Valve Using a Micro-incision Scleral Tunnel Technique.

Main genetic entities associated with tooth agenesis.

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.

A Novel Mutation of FOXC1 (P136L) in an Axenfeld-Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.

Detached Schwalbe line in Axenfeld-Rieger syndrome.

Diagnostic Challenges of Axenfeld-Rieger Syndrome and a Novel FOXC1 Gene Mutation in a Polish Family.

Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.

UNC-30/PITX coordinates neurotransmitter identity with postsynaptic GABA receptor clustering.

In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.

Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.

Unusual Posterior Capsular Pigmentation in Axenfeld-Rieger Anomaly.

Intergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2.

In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.

Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity.

Axenfeld-Rieger Syndrome and Possible Airway Complications.

ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld-Rieger syndrome.

Axenfeld-Rieger syndrome in the pediatric population: A review.

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.

Whole genome sequencing in families with oligodontia.

Glaucoma drainage device implantation in a pregnant woman with axenfeld-rieger syndrome.

Posterior embryotoxon as the initial ophthalmological sign of Axenfeld-Rieger syndrome.

Axenfeld-Reiger syndrome: A search for the missing links.

Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.

The morphology of angle dysgenesis assessed by ultrasound biomicroscopy and its relationship with glaucoma severity and mutant genes in Axenfeld-Rieger syndrome.

Penetrating Keratoplasty in Congenital Glaucoma.

A patient with concurrent Axenfeld-Rieger and Stickler syndromes verified by molecular genetics.

Modified horizontal muscle transposition without tenotomy and splitting for a case of inferior rectus and inferior oblique muscles aplasia with hemifacial microsomia.

Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.

Case Report: Congenital Pseudoacorea in an Ocular Axenfeld-Rieger Syndrome: What is it?

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening.

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.

Axenfeld-Rieger anomaly with slit pupils.

Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld-Rieger syndrome: case report and review of literature.

Microspherophakia: A clinical approach and mini review with a case report.

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features.

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives.

Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?

Axenfeld anomaly with persistent pupillary membrane.

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay.

Axenfeld-Rieger syndrome combined with ectropion uveae and pigment dispersion syndrome: A case report.

Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.

Craniofacial and dental features of Axenfeld-Rieger syndrome patients with PITX2 mutations.

The clinical and genetic findings in a Chinese family with Axenfeld-Rieger syndrome.

Leukoencephalopathy with spot-like calcifications caused by recessive COL4A2 variants.

Axenfeld-Rieger syndrome: a novel histopathologic finding associated with corneal abnormalities.

Cardiac anomalies in Axenfeld-Rieger syndrome.

Surgical Outcomes of Glaucoma Drainage Device Implantation in Refractory Glaucoma Patients in Thailand.

Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.

Axenfeld-Rieger syndrome in monozygotic twin brothers: Case report.

Ahmed glaucoma implant and augmented MicroPulse transscleral cyclophotocoagulation in a monocular Axenfeld-Rieger syndrome patient with glaucoma.

Characteristics of Corneal Endothelium in Axenfeld Rieger Spectrum.

Peripheral Anterior Synechiae as a Manifestation of Axenfeld-Rieger Anomaly.

Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome.

Posterior segment findings in Axenfeld-Rieger syndrome.

Dental and Maxillofacial Manifestations of Axenfeld-Rieger Syndrome: Presentation of a Case in a 5-Year-Old Girl.

Dental and Craniofacial Manifestation of Axenfeld-Rieger Syndrome: A Case Report.

Axenfeld-Rieger syndrome: more than meets the eye.

Enamel defects of Axenfeld-Rieger syndrome and the role of PITX2 in its pathogenesis.

Axenfeld-Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report.

A case of Axenfeld-Rieger syndrome with retinal detachment.

Complete detachment of the Schwalbe's line in a case of Axenfeld-Reiger anomaly - A rare presentation.

A rare case of unilateral Axenfeld-Rieger anomaly associated with optic disc coloboma: A multimodal imaging canvas.

Progressive Vision Loss in a Patient With Axenfeld-Rieger Syndrome.

The clinical outcomes of keratoplasty in irreversible corneal decompensation secondary to Axenfeld-Rieger syndrome.

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants.

Early-Onset Glaucoma in egl1 Mice Homozygous for Pitx2 Mutation.

First XEN implantation in Axenfeld- Rieger syndrome: A case report and literature review.

Case report of the rare Peters' anomaly complicated with Axenfeld-Rieger syndrome: A case report and brief review of the literature.

Hyperproliferative embryotoxon simulating double cornea.

A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.

Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients.

Identification and functional study of FOXC1 variants in Chinese families with glaucoma.

A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.

Extraocular muscle hypoplasia associated with Axenfeld-Rieger syndrome.

Mechanistic Insights into Axenfeld-Rieger Syndrome from Zebrafish foxc1 and pitx2 Mutants.

Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Bitot-like spots in children with normal vitamin A levels.

[Laser corepraxy in mesodermal iris dysgenesis (Axenfeld-Rieger syndrome) (case report)].

Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.

Adjunctive orthodontic therapy for prosthetic rehabilitation in a growing child with Axenfeld-Rieger syndrome: A case report.

The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning.

[Axenfeld–Rieger syndrome: ophthalmological and dental diagnostic and therapeutic options].

A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.

The management of a Moroccan family with Axenfeld-Rieger syndrome.

The Ocular Neural Crest: Specification, Migration, and Then What?

Loss of FOXC1 contributes to the corneal epithelial fate switch and pathogenesis.

Ocular hypertension in Axenfeld-Rieger Syndrome.

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.

Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.

A large deletion spanning PITX2 and PANCR in a Chinese family with Axenfeld-Rieger syndrome.

Sella turcica morphology in patients with genetic syndromes: A systematic review.

FOXC1 variant in a family with anterior segment dysgenesis and normal-tension glaucoma.

Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.

Axenfeld-Rieger Syndrome: Rare Case Presentation and Overview.

Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation.

Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome.

A case of Axenfeld-Rieger syndrome (ARS) with asymmetric ocular phenotypes and left glaucomatous optic atrophy.

Histological observation of trabecular meshwork in a patient with Axenfeld-Rieger syndrome-a new theory for the mechanism of ectropion uvea in congenital glaucoma.

Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulate NKX2-5 in model zebrafish embryos.

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).

High Iris Insertion in Axenfeld-Rieger Syndrome.

A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.

Novel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndrome.

Unusual association of Axenfeld-Rieger syndrome and wandering spleen: A case report.

Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome.

The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld-Rieger syndrome patient with small cornea: a case report.

Causes of congenital corneal opacities and their management in a tertiary care center.

Axenfeld-Rieger Anomaly and Neuropsychiatric Problems-More than Meets the Eye.

Anterior transposition of inferior oblique for inferior rectus muscle aplasia.

Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.

Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.

Repeat keratoplasty in failed Descemet stripping automated endothelial keratoplasty.

Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis.

Rieger Syndrome: Rehabilitation With Dental Implants.

A novel mutation of FOXC1 in a Chinese family with Axenfeld-Rieger syndrome.

Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome.

Improvement of Open Bite and Stomatognathic Function in an Axenfeld- Rieger Syndrome Patient by Orthodontic Sectional Arch Mechanics: Clinical Considerations and the Risk of Orthodontic Tooth Movement.

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing.

Progressive High Hypermetropic Shift as a Refractive Surprise Following Glaucoma Filtration Surgery in a Phakic Child With Early-Onset Childhood Glaucoma Associated With Axenfeld-Rieger Anomaly.

The Missing Mesenchyme Captured-Axenfeld-Rieger Anomaly.

Axenfeld-Rieger syndrome: A case report.

Unexpected phenotype in a patient with two chromosomal deletions involving 6pter and 22q11.

Double trouble: Microspherophakia with Axenfeld-Rieger anomaly.

The Diverse Consequences of FOXC1 Deregulation in Cancer.

Corneal crosslinking in a case with Axenfeld-Rieger syndrome and unilateral pellucid marginal degeneration.

Loss of foxc1 in zebrafish reduces optic nerve size and cell number in the retinal ganglion cell layer.

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.

Degenerated hair follicle cells and partial loss of sebaceous and eccrine glands in a familial case of axenfeld-rieger syndrome: An emerging role for the FOXC1/NFATC1 genetic axis.

Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients.

Treatment of chronic and extreme ocular hypotension following glaucoma surgery with intraocular platelet-rich plasma: A case report.

FoxO6 regulates Hippo signaling and growth of the craniofacial complex.

Axenfeld-Rieger syndrome as rare cause of umbilical abnormality.

Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes.

Achondroplasia With Congenital Onset Glaucoma, and Presumed Axenfeld-Rieger Anomaly.

Genetic linkage between altered tooth and eye development in lens-ablated Astyanax mexicanus.

Posterior Embryotoxon, Corectopia, and Cerebellar Dysgenesis.

Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.

FOXC1 Regulates Expression of Prostaglandin Receptors Leading to an Attenuated Response to Latanoprost.

Axenfeld-Rieger syndrome.

A novel 4q25 microdeletion encompassing PITX2 associated with Rieger syndrome.

Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.

Sterile keratitis after uneventful corneal collagen cross-linking in a patient with Axenfeld-Rieger syndrome.

Headache and Eye Pain in a Patient With Unusual Facial Morphology.

PITX2 deficiency and associated human disease: insights from the zebrafish model.

FOXC1, the new player in the cancer sandbox.

PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).

Axenfeld Rieger Anomaly Presenting as Spontaneous Hyphema.

[Embryotoxon in Axenfeld-Rieger syndrome in an infant].

Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

A novel PITX2 mutation in non-syndromic orodental anomalies.

4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features.

The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature.

A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings.

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome.

Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.

A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome.

FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.

Primary congenital and developmental glaucomas.

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.

Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.

A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris development.

A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.

Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.

[Progressive moderate mitral regurgitation in a children with Axenfeld-Rieger syndrome. The importance of cardiologic follow up].

Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.

Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1.

Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma.

A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome.

Novel syndrome with conductive hearing loss and congenital glaucoma in three generations.

A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.

Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs.

The 6p25 deletion syndrome: An update on a rare neurocristopathy.