Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction
Kathleen A Williamson, H Nikki Hall, Liusaidh J Owen, Benjamin J Livesey, Isabel M Hanson, G G W Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise Meire
- Heriot-Watt University, Edinburgh
- London School of Hygiene and Tropical Medicine
- St. Michael's Hospital
- North Bristol NHS Trust
- Universität Paul Sabatier
- Royal Devon and Exeter Hospitals (Heavitree)
- Newcastle upon Tyne Hospitals NHS Foundation Trust
- Royal Victoria Infirmary
- Hospices Civils de Lyon
- Femme-Mère-Enfants Hospital
- The James Cook University Hospital
- University Health Network
- Justus-Liebig-Universität Gießen
- Belfast Health and Social Care Trust
- UZ Brussels
- Sheffield Children's NHS Foundation Trust
- University Heart Center Freiburg-Bad Krozingen
- University of Southampton
- University of Cincinnati
- Queen Elizabeth University Hospital
- University Medical Center Groningen
- CHRU de Montpellier
- Birmingham Women's and Children's NHS Foundation Trust
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