Associated Papers
Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus.
Mitchell LA et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.
Hietamäki J et al.
Eclinicalmedicine, 2022
Genetic associations of protein-coding variants in human disease.
Sun BB et al.
Nature, 2022
Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
Seifi M et al.
Plos One, 2018
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