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
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
PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).
Park JE et al.
Annals of Laboratory Medicine, 2018
A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.
Yang HJ et al.
Korean Journal of Ophthalmology : Kjo, 2015
Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.
Yun JW et al.
Annals of Laboratory Medicine, 2013
A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndrome.
Kim GN et al.
Molecular Vision, 2013
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