1. 4q25 microdeletion encompassing PITX2 : A patient presenting with tetralogy of Fallot and dental anomalies without ocular features
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  2. A Novel NKX2.6 Mutation Associated with Congenital Ventricular Septal Defect
    Juan Wang et al, 2015, Pediatric Cardiology CrossRef
  3. Genetics of Transposition of Great Arteries: Between Laterality Abnormality and Outflow Tract Defect
    Marlon De Ita et al, 2021, Journal of Cardiovascular Translational Research CrossRef
  4. Prevalence and spectrum of NKX2.5 mutations in patients with congenital atrial septal defect and atrioventricular block
    Ying-Jia Xu et al, 2017, Molecular Medicine Reports CrossRef
  5. Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms
    Morteza Seifi et al, 2018, PLOS ONE CrossRef
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    Lan Zhao et al, 2014, European Journal of Medical Genetics CrossRef
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    Min Zhang et al, 2017, Experimental and Therapeutic Medicine CrossRef
  9. A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot
    CAI-XIA LU et al, 2016, International Journal of Molecular Medicine CrossRef
  10. Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa
    Nicholas Ekow Thomford et al, 2018, OMICS: A Journal of Integrative Biology CrossRef
  11. The diagnosis and phacoemulsification in combination with intraocular lens implantation for an Axenfeld–Rieger syndrome patient with small cornea: a case report
    Yajuan Ma et al, 2020, BMC Ophthalmology CrossRef
  12. Homeobox Genes and Homeodomain Proteins: New Insights into Cardiac Development, Degeneration and Regeneration
    Rokas Miksiunas et al, 2019, Cell Biology and Translational Medicine, Volume 6 CrossRef
  13. Human Genetics of Ventricular Septal Defect
    Katherina Bellmann et al, 2016, Congenital Heart Diseases: The Broken Heart CrossRef
  14. An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations
    Yan-Jie Li et al, 2017, Expert Review of Molecular Diagnostics CrossRef
  15. Axenfeld‐Rieger syndrome
    M. Seifi et al, 2018, Clinical Genetics CrossRef
  16. A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease
    Yun Pan et al, 2015, Pediatric Cardiology CrossRef
  17. High-risk genes involved in common septal defects of congenital heart disease
    S. Chaithra et al, 2022, Gene CrossRef
  18. TBX20 loss-of-function mutation contributes to double outlet right ventricle
    YUN PAN et al, 2015, International Journal of Molecular Medicine CrossRef
  19. Multiple Roles of Pitx2 in Cardiac Development and Disease
    Diego Franco et al, 2017, Journal of Cardiovascular Development and Disease CrossRef
  20. MESP1 loss-of-function mutation contributes to double outlet right ventricle
    Min Zhang et al, 2017, Molecular Medicine Reports CrossRef
  21. PITX2 loss-of-function mutation contributes to tetralogy of Fallot
    Yu-Min Sun et al, 2016, Gene CrossRef
  22. Corneal endothelial cell density and cardiovascular mortality
    Warren J. Scherer, 2018, Clinical Anatomy CrossRef
  23. Proarrhythmia in the p.Met207Val PITX2c-Linked Familial Atrial Fibrillation-Insights From Modeling
    Jieyun Bai et al, 2019, Frontiers in Physiology CrossRef
  24. PITX2 Loss-of-Function Mutation Contributes to Congenital Endocardial Cushion Defect and Axenfeld-Rieger Syndrome
    Cui-Mei Zhao et al, 2015, PLOS ONE CrossRef
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    Thai Q Tran et al, 2021, Cellular and Molecular Life Sciences CrossRef