Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
Vetriselvan Y et al.
Biochemical Genetics, 2025
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
A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome.
Hassed SJ et al.
Molecular Syndromology, 2017
Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.
Footz T et al.
Investigative Ophthalmology & Visual Science, 2009
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