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
Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.
Fernandez-Luna JL et al.
Molecular Genetics & Genomic Medicine, 2024
38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1
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
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM17_ESM.xlsx › Sheet1
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
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Carmona S et al.
American Journal of Medical Genetics. Part A, 2017
Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.
Seifi M et al.
Human Mutation, 2017
Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.
Medina-Trillo C et al.
European Journal of Human Genetics : Ejhg, 2016
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
Functionally significant, rare transcription factor variants in tetralogy of Fallot.
Töpf A et al.
Plos One, 2014
Genetic and genomic analysis of classic aniridia in Saudi Arabia.
Khan AO et al.
Molecular Vision, 2011
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z et al.
European Journal of Human Genetics : Ejhg, 2009
Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis.
Fetterman CD et al.
Clinical Genetics, 2009
Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies.
Kaur K et al.
Molecular Vision, 2009
Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.
Strungaru MH et al.
Investigative Ophthalmology & Visual Science, 2007
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