Associated Papers
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
Vetriselvan Y et al.
Biochemical Genetics, 2025
Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients.
Zhang Y et al.
Frontiers in Genetics, 2021
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
Prevalence and spectrum of PITX2c mutations associated with congenital heart disease.
Wang J et al.
Dna and Cell Biology, 2013
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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