Associated Papers
Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.
Tian Y et al.
Ophthalmic Genetics, 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
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing.
Zhang L et al.
Bmc Medical Genetics, 2019
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Wang X et al.
Current Eye Research, 2018
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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