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Last Updated: 10/31/2025
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Found 186 publications
19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.
Journal: Klinische Monatsblatter fur Augenheilkunde
Published: January 27, 2025
Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.
Journal: Ophthalmic genetics
Published: November 26, 2024
In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.
Journal: Investigative ophthalmology & visual science
Published: April 08, 2024
Unusual Posterior Capsular Pigmentation in Axenfeld-Rieger Anomaly.
Journal: Ophthalmology. Glaucoma
Published: March 13, 2024
A Novel Mutation of FOXC1 (P136L) in an Axenfeld-Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.
Journal: Molecular genetics & genomic medicine
Published: March 11, 2024
Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.
Journal: Scientific reports
Published: February 23, 2024
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
Journal: Biochemical genetics
Published: February 07, 2024
Posterior embryotoxon as the initial ophthalmological sign of Axenfeld-Rieger syndrome.
Journal: Archivos de la Sociedad Espanola de Oftalmologia
Published: October 17, 2023
Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.
Journal: Genes
Published: September 23, 2023
Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
Journal: American journal of medical genetics. Part A
Published: August 28, 2023
Last Updated: 10/31/2025