Associated Papers
Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.
Tian Y et al.
Ophthalmic Genetics, 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
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
An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations.
Li YJ et al.
Expert Review of Molecular Diagnostics, 2017
PITX2 loss-of-function mutation contributes to tetralogy of Fallot.
Sun YM et al.
Gene, 2016
PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome.
Zhao CM et al.
Plos One, 2015
Novel PITX2c loss-of-function mutations associated with complex congenital heart disease.
Wei D et al.
International Journal of Molecular Medicine, 2014
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