Associated Papers
In Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
Vetriselvan Y et al.
Biochemical Genetics, 2025
Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.
Fournier BP et al.
Journal of Dental Research, 2018
29879364 (PubMed )
Supplement: ds_10.1177_0022034518777460.pdf
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
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
Molecular characteristics of inherited congenital cataracts.
Huang B et al.
European Journal of Medical Genetics, 0
Select a paper to view details