Associated Papers
A Novel Mutation of FOXC1 (P136L) in an Axenfeld-Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.
Yoshino Y et al.
Molecular Genetics & Genomic Medicine, 2024
In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.
Untaroiu A et al.
Investigative Ophthalmology & Visual Science, 2024
38587439 (PubMed )
Supplement: iovs-65-4-20_s001.pdf
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Case_Studies
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.
Ahmed MR et al.
Genes, 2022
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Wang R et al.
Bmc Medical Genomics, 2021
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.
Li K et al.
Bmc Medical Genomics, 2021
Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1.
Kumar M et al.
Pediatric Neurology, 2017
Select a paper to view details