Associated Papers
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM1_ESM.pdf
Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience.
Han JY et al.
Annals of Human Genetics, 2019
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
Han JY et al.
Frontiers in Pediatrics, 2018
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations.
Park SH et al.
Molecular Vision, 2012
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
Robinson DO et al.
American Journal of Medical Genetics. Part A, 2008
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