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
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 › Non-Case_Studies
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Wang R et al.
Bmc Medical Genomics, 2021
34809627 (PubMed )
Supplement: 12920_2021_1130_MOESM1_ESM.xlsx › ARS
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.
Thanikachalam S et al.
Genes, 2020
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.
Hariri H et al.
Journal of Dermatological Science, 2018
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.
Souzeau E et al.
European Journal of Human Genetics : Ejhg, 2017
A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.
Du RF et al.
Ophthalmic Genetics, 2016
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.
Medina-Trillo C et al.
Plos One, 2015
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
D'haene B et al.
Investigative Ophthalmology & Visual Science, 2011
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