Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants
J. Moravikova1, Z. Kozmik2, L. Hlavata1, M. Putzova3, P. Skalicka1,4, M. Michaelides5,6, F. Malinka1,7, Lubica Dudakova1, P. Liskova1,4
1Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic 2Department of Transcriptional Regulation, Institute of Molecular Genetics, Czech Academy of Sciences, Prague, Czech Republic 3Biopticka laborator s.r.o., Pilsen, Czech Republic 4Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic 5Moorfields Eye Hospital NHS Foundation Trust, London, UK 6UCL Institute of Ophthalmology, University College London, UK 7Department of Computer Science, Czech Technical University in Prague, Czech Republic